Canonical Allele Identifier: CA375312151

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394341G>C (hg19) ; chr9:g.131518954G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518954G>C , CM000671.2:g.131518954G>C	GRCh38
NC_000009.11:g.134394341G>C , CM000671.1:g.134394341G>C	GRCh37
NC_000009.10:g.133384162G>C	NCBI36
NG_008896.1:g.21053G>C
NG_008896.2:g.21053G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1321G>C	ENSP00000343034.7:p.Ala441Pro
ENST00000404875.7:n.2023G>C
ENST00000423007.6:c.1540G>C	ENSP00000404119.2:p.Ala514Pro
ENST00000677295.2:c.*1827G>C	ENSP00000504346.2:n.*1827G>C
ENST00000678264.2:c.*1666G>C	ENSP00000503157.2:n.*1666G>C
ENST00000682070.1:n.1948G>C
ENST00000682539.1:c.421G>C
ENST00000682813.1:n.1887G>C
ENST00000683392.1:n.4230G>C
ENST00000683712.1:n.1888G>C
ENST00000683900.1:n.3383G>C
ENST00000684062.1:n.2149G>C
ENST00000684579.1:n.3329G>C
ENST00000684679.1:n.710G>C
ENST00000341012.12:c.1321G>C	ENSP00000343034.7:p.Ala441Pro
ENST00000372220.5:c.352G>C	ENSP00000361294.5:p.Ala118Pro
ENST00000372228.9:c.1549G>C	ENSP00000361302.3:p.Ala517Pro
ENST00000402686.8:c.1483G>C MANE Select	ENSP00000385797.4:p.Ala495Pro
ENST00000676640.1:c.1483G>C	ENSP00000503281.1:p.Ala495Pro
ENST00000676803.1:c.658G>C	ENSP00000503093.1:p.Ala220Pro
ENST00000676835.1:c.*698G>C	ENSP00000502911.1:n.*698G>C
ENST00000677029.1:c.1027G>C	ENSP00000502936.1:p.Ala343Pro
ENST00000677099.1:c.*1193G>C	ENSP00000504553.1:n.*1193G>C
ENST00000677216.1:c.1132G>C	ENSP00000503772.1:p.Ala378Pro
ENST00000677221.1:n.508G>C
ENST00000677295.1:c.*860G>C	ENSP00000504346.1:n.*860G>C
ENST00000677444.1:c.1428G>C
ENST00000677586.1:n.964G>C
ENST00000677626.1:c.1132G>C	ENSP00000503552.1:p.Ala378Pro
ENST00000677677.1:n.1443G>C
ENST00000677853.1:c.*491G>C	ENSP00000503488.1:n.*491G>C
ENST00000678202.1:n.642G>C
ENST00000678264.1:c.*860G>C	ENSP00000503157.1:n.*860G>C
ENST00000678303.1:c.1393G>C	ENSP00000503696.1:p.Ala465Pro
ENST00000678366.1:c.*1732G>C	ENSP00000504353.1:n.*1732G>C
ENST00000678546.1:c.*1428G>C	ENSP00000503062.1:n.*1428G>C
ENST00000678548.1:c.*1555G>C	ENSP00000503934.1:n.*1555G>C
ENST00000678626.1:n.1319G>C
ENST00000678733.1:c.564G>C
ENST00000678739.1:c.*1809G>C	ENSP00000503806.1:n.*1809G>C
ENST00000678833.1:c.*930G>C	ENSP00000503893.1:n.*930G>C
ENST00000679023.1:c.1321G>C	ENSP00000503718.1:p.Ala441Pro
ENST00000679076.1:c.1102G>C
ENST00000679111.1:c.*239G>C	ENSP00000504257.1:n.*239G>C
ENST00000679189.1:c.1132G>C	ENSP00000503356.1:p.Ala378Pro
ENST00000341012.11:c.1321G>C	ENSP00000343034.7:p.Ala441Pro
ENST00000372220.4:c.346G>C	ENSP00000361294.4:p.Ala116Pro
ENST00000372228.7:c.1549G>C	ENSP00000361302.3:p.Ala517Pro
ENST00000402686.7:c.1483G>C	ENSP00000385797.3:p.Ala495Pro
ENST00000404875.6:c.1132G>C	ENSP00000384531.2:p.Ala378Pro
ENST00000423007.5:c.1483G>C	ENSP00000404119.1:p.Ala495Pro
ENST00000467848.1:n.187G>C
ENST00000485278.5:n.2038G>C
NM_001077365.1:c.1483G>C	NP_001070833.1:p.Ala495Pro
NM_001077366.1:c.1321G>C	NP_001070834.1:p.Ala441Pro
NM_001136113.1:c.1483G>C	NP_001129585.1:p.Ala495Pro
NM_001136114.1:c.1132G>C	NP_001129586.1:p.Ala378Pro
NM_007171.3:c.1549G>C	NP_009102.3:p.Ala517Pro
XM_005272156.1:c.1549G>C	XP_005272213.1:p.Ala517Pro
XM_005272158.1:c.1387G>C	XP_005272215.1:p.Ala463Pro
XM_005272159.1:c.1198G>C	XP_005272216.1:p.Ala400Pro
XM_005272162.1:c.352G>C	XP_005272219.1:p.Ala118Pro
XM_006716932.1:c.1198G>C	XP_006716995.1:p.Ala400Pro
XM_011518140.1:c.1402G>C	XP_011516442.1:p.Ala468Pro
XM_011518141.1:c.1336G>C	XP_011516443.1:p.Ala446Pro
XM_011518142.1:c.1240G>C	XP_011516444.1:p.Ala414Pro
XM_011518143.1:c.1234G>C	XP_011516445.1:p.Ala412Pro
XM_011518145.1:c.1093G>C	XP_011516447.1:p.Ala365Pro
XM_011518147.1:c.421G>C	XP_011516449.1:p.Ala141Pro
XR_929703.1:n.1725G>C
NM_001353193.1:c.1549G>C	NP_001340122.1:p.Ala517Pro
NM_001353194.1:c.1321G>C	NP_001340123.1:p.Ala441Pro
NM_001353195.1:c.1132G>C	NP_001340124.1:p.Ala378Pro
NM_001353196.1:c.1393G>C	NP_001340125.1:p.Ala465Pro
NM_001353197.1:c.1387G>C	NP_001340126.1:p.Ala463Pro
NM_001353198.1:c.1387G>C	NP_001340127.1:p.Ala463Pro
NM_001353199.1:c.1198G>C	NP_001340128.1:p.Ala400Pro
NM_001353200.1:c.1027G>C	NP_001340129.1:p.Ala343Pro
NR_148391.1:n.1533G>C
NR_148392.1:n.1751G>C
NR_148393.1:n.1672G>C
NR_148394.1:n.1426G>C
NR_148395.1:n.1824G>C
NR_148396.1:n.1458G>C
NR_148397.1:n.1583G>C
NR_148398.1:n.1538G>C
NR_148399.1:n.2064G>C
NR_148400.1:n.1663G>C
XM_005272162.3:c.352G>C	XP_005272219.1:p.Ala118Pro
XM_006716932.2:c.1198G>C	XP_006716995.1:p.Ala400Pro
XM_011518140.2:c.1402G>C	XP_011516442.1:p.Ala468Pro
XM_011518141.2:c.1336G>C	XP_011516443.1:p.Ala446Pro
XM_011518142.2:c.1240G>C	XP_011516444.1:p.Ala414Pro
XM_011518143.2:c.1234G>C	XP_011516445.1:p.Ala412Pro
XM_011518145.2:c.1093G>C	XP_011516447.1:p.Ala365Pro
XM_017014205.2:c.352G>C	XP_016869694.1:p.Ala118Pro
XM_024447380.1:c.352G>C	XP_024303148.1:p.Ala118Pro
XM_024447381.1:c.658G>C	XP_024303149.1:p.Ala220Pro
XM_024447382.1:c.352G>C	XP_024303150.1:p.Ala118Pro
XR_001746160.2:n.1653G>C
XR_001746162.2:n.1858G>C
XR_001746164.1:n.1575G>C
XR_001746166.2:n.1870G>C
NM_001077365.2:c.1483G>C MANE Select	NP_001070833.1:p.Ala495Pro
NM_001077366.2:c.1321G>C	NP_001070834.1:p.Ala441Pro
NM_001136113.2:c.1483G>C	NP_001129585.1:p.Ala495Pro
NM_001136114.2:c.1132G>C	NP_001129586.1:p.Ala378Pro
NM_001353193.2:c.1549G>C	NP_001340122.2:p.Ala517Pro
NM_001353194.2:c.1321G>C	NP_001340123.1:p.Ala441Pro
NM_001353195.2:c.1132G>C	NP_001340124.1:p.Ala378Pro
NM_001353196.2:c.1393G>C	NP_001340125.1:p.Ala465Pro
NM_001353197.2:c.1387G>C	NP_001340126.2:p.Ala463Pro
NM_001353198.2:c.1387G>C	NP_001340127.2:p.Ala463Pro
NM_001353199.2:c.1198G>C	NP_001340128.2:p.Ala400Pro
NM_001353200.2:c.1027G>C	NP_001340129.1:p.Ala343Pro
NM_001374689.1:c.1471G>C	NP_001361618.1:p.Ala491Pro
NM_001374690.1:c.1365+417G>C	NP_001361619.1:n.1365+417G>C
NM_001374691.1:c.1132G>C	NP_001361620.1:p.Ala378Pro
NM_001374692.1:c.1132G>C	NP_001361621.1:p.Ala378Pro
NM_001374693.1:c.1132G>C	NP_001361622.1:p.Ala378Pro
NM_001374695.1:c.1093G>C	NP_001361624.1:p.Ala365Pro
NM_007171.4:c.1549G>C	NP_009102.4:p.Ala517Pro
NR_148391.2:n.1517G>C
NR_148392.2:n.1735G>C
NR_148393.2:n.1656G>C
NR_148394.2:n.1410G>C
NR_148395.2:n.1808G>C
NR_148396.2:n.1442G>C
NR_148397.2:n.1567G>C
NR_148398.2:n.1522G>C
NR_148399.2:n.2048G>C
NR_148400.2:n.1647G>C