Canonical Allele Identifier: CA375313716

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396772T>C (hg19) ; chr9:g.131521385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521385T>C , CM000671.2:g.131521385T>C	GRCh38
NC_000009.11:g.134396772T>C , CM000671.1:g.134396772T>C	GRCh37
NC_000009.10:g.133386593T>C	NCBI36
NG_008896.1:g.23484T>C
NG_008896.2:g.23484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1576T>C	ENSP00000343034.7:p.Ser526Pro
ENST00000404875.7:n.2278T>C
ENST00000423007.6:c.1795T>C	ENSP00000404119.2:p.Ser599Pro
ENST00000677295.2:c.*2082T>C	ENSP00000504346.2:n.*2082T>C
ENST00000678264.2:c.*1921T>C	ENSP00000503157.2:n.*1921T>C
ENST00000682070.1:n.2203T>C
ENST00000682813.1:n.2142T>C
ENST00000683392.1:n.4485T>C
ENST00000683712.1:n.2143T>C
ENST00000683900.1:n.3638T>C
ENST00000684062.1:n.2404T>C
ENST00000684579.1:n.3584T>C
ENST00000684679.1:n.965T>C
ENST00000341012.12:c.1576T>C	ENSP00000343034.7:p.Ser526Pro
ENST00000372220.5:c.607T>C	ENSP00000361294.5:p.Ser203Pro
ENST00000372228.9:c.1804T>C	ENSP00000361302.3:p.Ser602Pro
ENST00000402686.8:c.1738T>C MANE Select	ENSP00000385797.4:p.Ser580Pro
ENST00000676640.1:c.1738T>C	ENSP00000503281.1:p.Ser580Pro
ENST00000676803.1:c.799T>C	ENSP00000503093.1:p.Ser267Pro
ENST00000676835.1:c.*953T>C	ENSP00000502911.1:n.*953T>C
ENST00000677029.1:c.1282T>C	ENSP00000502936.1:p.Ser428Pro
ENST00000677099.1:c.*1448T>C	ENSP00000504553.1:n.*1448T>C
ENST00000677216.1:c.1387T>C	ENSP00000503772.1:p.Ser463Pro
ENST00000677221.1:n.763T>C
ENST00000677295.1:c.*1115T>C	ENSP00000504346.1:n.*1115T>C
ENST00000677444.1:c.1683T>C
ENST00000677586.1:n.1105T>C
ENST00000677626.1:c.1387T>C	ENSP00000503552.1:p.Ser463Pro
ENST00000677853.1:c.*746T>C	ENSP00000503488.1:n.*746T>C
ENST00000678202.1:n.897T>C
ENST00000678264.1:c.*1115T>C	ENSP00000503157.1:n.*1115T>C
ENST00000678303.1:c.1648T>C	ENSP00000503696.1:p.Ser550Pro
ENST00000678366.1:c.*1987T>C	ENSP00000504353.1:n.*1987T>C
ENST00000678546.1:c.*1683T>C	ENSP00000503062.1:n.*1683T>C
ENST00000678548.1:c.*1810T>C	ENSP00000503934.1:n.*1810T>C
ENST00000678626.1:n.1574T>C
ENST00000678739.1:c.*2059T>C	ENSP00000503806.1:n.*2059T>C
ENST00000678833.1:c.*1490T>C	ENSP00000503893.1:n.*1490T>C
ENST00000679023.1:c.1576T>C	ENSP00000503718.1:p.Ser526Pro
ENST00000679076.1:c.1357T>C
ENST00000679111.1:c.*494T>C	ENSP00000504257.1:n.*494T>C
ENST00000679189.1:c.1387T>C	ENSP00000503356.1:p.Ser463Pro
ENST00000341012.11:c.1576T>C	ENSP00000343034.7:p.Ser526Pro
ENST00000372220.4:c.601T>C	ENSP00000361294.4:p.Ser201Pro
ENST00000372228.7:c.1804T>C	ENSP00000361302.3:p.Ser602Pro
ENST00000402686.7:c.1738T>C	ENSP00000385797.3:p.Ser580Pro
ENST00000404875.6:c.1387T>C	ENSP00000384531.2:p.Ser463Pro
ENST00000423007.5:c.1738T>C	ENSP00000404119.1:p.Ser580Pro
ENST00000467848.1:n.442T>C
ENST00000485278.5:n.2288T>C
ENST00000494883.1:n.281T>C
NM_001077365.1:c.1738T>C	NP_001070833.1:p.Ser580Pro
NM_001077366.1:c.1576T>C	NP_001070834.1:p.Ser526Pro
NM_001136113.1:c.1738T>C	NP_001129585.1:p.Ser580Pro
NM_001136114.1:c.1387T>C	NP_001129586.1:p.Ser463Pro
NM_007171.3:c.1804T>C	NP_009102.3:p.Ser602Pro
XM_005272156.1:c.1804T>C	XP_005272213.1:p.Ser602Pro
XM_005272158.1:c.1642T>C	XP_005272215.1:p.Ser548Pro
XM_005272159.1:c.1453T>C	XP_005272216.1:p.Ser485Pro
XM_005272162.1:c.607T>C	XP_005272219.1:p.Ser203Pro
XM_006716932.1:c.1453T>C	XP_006716995.1:p.Ser485Pro
XM_011518140.1:c.1657T>C	XP_011516442.1:p.Ser553Pro
XM_011518141.1:c.1591T>C	XP_011516443.1:p.Ser531Pro
XM_011518142.1:c.1495T>C	XP_011516444.1:p.Ser499Pro
XM_011518143.1:c.1489T>C	XP_011516445.1:p.Ser497Pro
XM_011518145.1:c.1348T>C	XP_011516447.1:p.Ser450Pro
XM_011518147.1:c.676T>C	XP_011516449.1:p.Ser226Pro
XR_929703.1:n.1980T>C
NM_001353193.1:c.1804T>C	NP_001340122.1:p.Ser602Pro
NM_001353194.1:c.1576T>C	NP_001340123.1:p.Ser526Pro
NM_001353195.1:c.1387T>C	NP_001340124.1:p.Ser463Pro
NM_001353196.1:c.1648T>C	NP_001340125.1:p.Ser550Pro
NM_001353197.1:c.1642T>C	NP_001340126.1:p.Ser548Pro
NM_001353198.1:c.1642T>C	NP_001340127.1:p.Ser548Pro
NM_001353199.1:c.1453T>C	NP_001340128.1:p.Ser485Pro
NM_001353200.1:c.1282T>C	NP_001340129.1:p.Ser428Pro
NR_148391.1:n.1788T>C
NR_148392.1:n.2006T>C
NR_148393.1:n.1927T>C
NR_148394.1:n.1681T>C
NR_148395.1:n.2079T>C
NR_148396.1:n.1713T>C
NR_148397.1:n.1838T>C
NR_148398.1:n.1793T>C
NR_148399.1:n.2319T>C
NR_148400.1:n.1918T>C
XM_005272162.3:c.607T>C	XP_005272219.1:p.Ser203Pro
XM_006716932.2:c.1453T>C	XP_006716995.1:p.Ser485Pro
XM_011518140.2:c.1657T>C	XP_011516442.1:p.Ser553Pro
XM_011518141.2:c.1591T>C	XP_011516443.1:p.Ser531Pro
XM_011518142.2:c.1495T>C	XP_011516444.1:p.Ser499Pro
XM_011518143.2:c.1489T>C	XP_011516445.1:p.Ser497Pro
XM_011518145.2:c.1348T>C	XP_011516447.1:p.Ser450Pro
XM_017014205.2:c.607T>C	XP_016869694.1:p.Ser203Pro
XM_024447380.1:c.607T>C	XP_024303148.1:p.Ser203Pro
XM_024447381.1:c.913T>C	XP_024303149.1:p.Ser305Pro
XM_024447382.1:c.607T>C	XP_024303150.1:p.Ser203Pro
XR_001746160.2:n.1908T>C
XR_001746162.2:n.2113T>C
XR_001746164.1:n.1830T>C
XR_001746166.2:n.2125T>C
NM_001077365.2:c.1738T>C MANE Select	NP_001070833.1:p.Ser580Pro
NM_001077366.2:c.1576T>C	NP_001070834.1:p.Ser526Pro
NM_001136113.2:c.1738T>C	NP_001129585.1:p.Ser580Pro
NM_001136114.2:c.1387T>C	NP_001129586.1:p.Ser463Pro
NM_001353193.2:c.1804T>C	NP_001340122.2:p.Ser602Pro
NM_001353194.2:c.1576T>C	NP_001340123.1:p.Ser526Pro
NM_001353195.2:c.1387T>C	NP_001340124.1:p.Ser463Pro
NM_001353196.2:c.1648T>C	NP_001340125.1:p.Ser550Pro
NM_001353197.2:c.1642T>C	NP_001340126.2:p.Ser548Pro
NM_001353198.2:c.1642T>C	NP_001340127.2:p.Ser548Pro
NM_001353199.2:c.1453T>C	NP_001340128.2:p.Ser485Pro
NM_001353200.2:c.1282T>C	NP_001340129.1:p.Ser428Pro
NM_001374689.1:c.1726T>C	NP_001361618.1:p.Ser576Pro
NM_001374690.1:c.1519T>C	NP_001361619.1:p.Ser507Pro
NM_001374691.1:c.1387T>C	NP_001361620.1:p.Ser463Pro
NM_001374692.1:c.1387T>C	NP_001361621.1:p.Ser463Pro
NM_001374693.1:c.1387T>C	NP_001361622.1:p.Ser463Pro
NM_001374695.1:c.1348T>C	NP_001361624.1:p.Ser450Pro
NM_007171.4:c.1804T>C	NP_009102.4:p.Ser602Pro
NR_148391.2:n.1772T>C
NR_148392.2:n.1990T>C
NR_148393.2:n.1911T>C
NR_148394.2:n.1665T>C
NR_148395.2:n.2063T>C
NR_148396.2:n.1697T>C
NR_148397.2:n.1822T>C
NR_148398.2:n.1777T>C
NR_148399.2:n.2303T>C
NR_148400.2:n.1902T>C