Canonical Allele Identifier: CA467423895

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396855T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521468T>G , CM000671.2:g.131521468T>G	GRCh38
NC_000009.11:g.134396855T>G , CM000671.1:g.134396855T>G	GRCh37
NC_000009.10:g.133386676T>G	NCBI36
NG_008896.1:g.23567T>G
NG_008896.2:g.23567T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1659T>G	ENSP00000343034.7:p.Pro553=
ENST00000404875.7:n.2361T>G
ENST00000423007.6:c.1878T>G	ENSP00000404119.2:p.Pro626=
ENST00000677295.2:c.*2165T>G	ENSP00000504346.2:n.*2165T>G
ENST00000678264.2:c.*2004T>G	ENSP00000503157.2:n.*2004T>G
ENST00000682070.1:n.2286T>G
ENST00000682813.1:n.2225T>G
ENST00000683392.1:n.4568T>G
ENST00000683712.1:n.2226T>G
ENST00000683900.1:n.3721T>G
ENST00000684062.1:n.2487T>G
ENST00000684579.1:n.3667T>G
ENST00000684679.1:n.1048T>G
ENST00000341012.12:c.1659T>G	ENSP00000343034.7:p.Pro553=
ENST00000372220.5:c.690T>G	ENSP00000361294.5:p.Pro230=
ENST00000372228.9:c.1887T>G	ENSP00000361302.3:p.Pro629=
ENST00000402686.8:c.1821T>G MANE Select	ENSP00000385797.4:p.Pro607=
ENST00000676640.1:c.1821T>G	ENSP00000503281.1:p.Pro607=
ENST00000676803.1:c.882T>G	ENSP00000503093.1:p.Pro294=
ENST00000676835.1:c.*1036T>G	ENSP00000502911.1:n.*1036T>G
ENST00000677029.1:c.1365T>G	ENSP00000502936.1:p.Pro455=
ENST00000677099.1:c.*1531T>G	ENSP00000504553.1:n.*1531T>G
ENST00000677216.1:c.1470T>G	ENSP00000503772.1:p.Pro490=
ENST00000677221.1:n.846T>G
ENST00000677295.1:c.*1198T>G	ENSP00000504346.1:n.*1198T>G
ENST00000677444.1:c.1766T>G
ENST00000677586.1:n.1188T>G
ENST00000677626.1:c.1470T>G	ENSP00000503552.1:p.Pro490=
ENST00000677853.1:c.*829T>G	ENSP00000503488.1:n.*829T>G
ENST00000678202.1:n.980T>G
ENST00000678264.1:c.*1198T>G	ENSP00000503157.1:n.*1198T>G
ENST00000678303.1:c.1731T>G	ENSP00000503696.1:p.Pro577=
ENST00000678366.1:c.*2070T>G	ENSP00000504353.1:n.*2070T>G
ENST00000678546.1:c.*1766T>G	ENSP00000503062.1:n.*1766T>G
ENST00000678548.1:c.*1893T>G	ENSP00000503934.1:n.*1893T>G
ENST00000678626.1:n.1657T>G
ENST00000678739.1:c.*2142T>G	ENSP00000503806.1:n.*2142T>G
ENST00000678833.1:c.*1573T>G	ENSP00000503893.1:n.*1573T>G
ENST00000679023.1:c.1659T>G	ENSP00000503718.1:p.Pro553=
ENST00000679076.1:c.1440T>G
ENST00000679111.1:c.*577T>G	ENSP00000504257.1:n.*577T>G
ENST00000679189.1:c.1470T>G	ENSP00000503356.1:p.Pro490=
ENST00000341012.11:c.1659T>G	ENSP00000343034.7:p.Pro553=
ENST00000372220.4:c.684T>G	ENSP00000361294.4:p.Pro228=
ENST00000372228.7:c.1887T>G	ENSP00000361302.3:p.Pro629=
ENST00000402686.7:c.1821T>G	ENSP00000385797.3:p.Pro607=
ENST00000404875.6:c.1470T>G	ENSP00000384531.2:p.Pro490=
ENST00000423007.5:c.1821T>G	ENSP00000404119.1:p.Pro607=
ENST00000485278.5:n.2371T>G
ENST00000494883.1:n.364T>G
NM_001077365.1:c.1821T>G	NP_001070833.1:p.Pro607=
NM_001077366.1:c.1659T>G	NP_001070834.1:p.Pro553=
NM_001136113.1:c.1821T>G	NP_001129585.1:p.Pro607=
NM_001136114.1:c.1470T>G	NP_001129586.1:p.Pro490=
NM_007171.3:c.1887T>G	NP_009102.3:p.Pro629=
XM_005272156.1:c.1887T>G	XP_005272213.1:p.Pro629=
XM_005272158.1:c.1725T>G	XP_005272215.1:p.Pro575=
XM_005272159.1:c.1536T>G	XP_005272216.1:p.Pro512=
XM_005272162.1:c.690T>G	XP_005272219.1:p.Pro230=
XM_006716932.1:c.1536T>G	XP_006716995.1:p.Pro512=
XM_011518140.1:c.1740T>G	XP_011516442.1:p.Pro580=
XM_011518141.1:c.1674T>G	XP_011516443.1:p.Pro558=
XM_011518142.1:c.1578T>G	XP_011516444.1:p.Pro526=
XM_011518143.1:c.1572T>G	XP_011516445.1:p.Pro524=
XM_011518145.1:c.1431T>G	XP_011516447.1:p.Pro477=
XM_011518147.1:c.759T>G	XP_011516449.1:p.Pro253=
XR_929703.1:n.2063T>G
NM_001353193.1:c.1887T>G	NP_001340122.1:p.Pro629=
NM_001353194.1:c.1659T>G	NP_001340123.1:p.Pro553=
NM_001353195.1:c.1470T>G	NP_001340124.1:p.Pro490=
NM_001353196.1:c.1731T>G	NP_001340125.1:p.Pro577=
NM_001353197.1:c.1725T>G	NP_001340126.1:p.Pro575=
NM_001353198.1:c.1725T>G	NP_001340127.1:p.Pro575=
NM_001353199.1:c.1536T>G	NP_001340128.1:p.Pro512=
NM_001353200.1:c.1365T>G	NP_001340129.1:p.Pro455=
NR_148391.1:n.1871T>G
NR_148392.1:n.2089T>G
NR_148393.1:n.2010T>G
NR_148394.1:n.1764T>G
NR_148395.1:n.2162T>G
NR_148396.1:n.1796T>G
NR_148397.1:n.1921T>G
NR_148398.1:n.1876T>G
NR_148399.1:n.2402T>G
NR_148400.1:n.2001T>G
XM_005272162.3:c.690T>G	XP_005272219.1:p.Pro230=
XM_006716932.2:c.1536T>G	XP_006716995.1:p.Pro512=
XM_011518140.2:c.1740T>G	XP_011516442.1:p.Pro580=
XM_011518141.2:c.1674T>G	XP_011516443.1:p.Pro558=
XM_011518142.2:c.1578T>G	XP_011516444.1:p.Pro526=
XM_011518143.2:c.1572T>G	XP_011516445.1:p.Pro524=
XM_011518145.2:c.1431T>G	XP_011516447.1:p.Pro477=
XM_017014205.2:c.690T>G	XP_016869694.1:p.Pro230=
XM_024447380.1:c.690T>G	XP_024303148.1:p.Pro230=
XM_024447381.1:c.996T>G	XP_024303149.1:p.Pro332=
XM_024447382.1:c.690T>G	XP_024303150.1:p.Pro230=
XR_001746160.2:n.1991T>G
XR_001746162.2:n.2196T>G
XR_001746164.1:n.1913T>G
XR_001746166.2:n.2208T>G
NM_001077365.2:c.1821T>G MANE Select	NP_001070833.1:p.Pro607=
NM_001077366.2:c.1659T>G	NP_001070834.1:p.Pro553=
NM_001136113.2:c.1821T>G	NP_001129585.1:p.Pro607=
NM_001136114.2:c.1470T>G	NP_001129586.1:p.Pro490=
NM_001353193.2:c.1887T>G	NP_001340122.2:p.Pro629=
NM_001353194.2:c.1659T>G	NP_001340123.1:p.Pro553=
NM_001353195.2:c.1470T>G	NP_001340124.1:p.Pro490=
NM_001353196.2:c.1731T>G	NP_001340125.1:p.Pro577=
NM_001353197.2:c.1725T>G	NP_001340126.2:p.Pro575=
NM_001353198.2:c.1725T>G	NP_001340127.2:p.Pro575=
NM_001353199.2:c.1536T>G	NP_001340128.2:p.Pro512=
NM_001353200.2:c.1365T>G	NP_001340129.1:p.Pro455=
NM_001374689.1:c.1809T>G	NP_001361618.1:p.Pro603=
NM_001374690.1:c.1602T>G	NP_001361619.1:p.Pro534=
NM_001374691.1:c.1470T>G	NP_001361620.1:p.Pro490=
NM_001374692.1:c.1470T>G	NP_001361621.1:p.Pro490=
NM_001374693.1:c.1470T>G	NP_001361622.1:p.Pro490=
NM_001374695.1:c.1431T>G	NP_001361624.1:p.Pro477=
NM_007171.4:c.1887T>G	NP_009102.4:p.Pro629=
NR_148391.2:n.1855T>G
NR_148392.2:n.2073T>G
NR_148393.2:n.1994T>G
NR_148394.2:n.1748T>G
NR_148395.2:n.2146T>G
NR_148396.2:n.1780T>G
NR_148397.2:n.1905T>G
NR_148398.2:n.1860T>G
NR_148399.2:n.2386T>G
NR_148400.2:n.1985T>G