Canonical Allele Identifier: CA375314959

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522951-A-T
• MyVariant Identifiers: chr9:g.134398338A>T (hg19) ; chr9:g.131522951A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522951A>T , CM000671.2:g.131522951A>T	GRCh38
NC_000009.11:g.134398338A>T , CM000671.1:g.134398338A>T	GRCh37
NC_000009.10:g.133388159A>T	NCBI36
NG_008896.1:g.25050A>T
NG_008896.2:g.25050A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1861A>T	ENSP00000343034.7:p.Ile621Phe
ENST00000404875.7:n.2563A>T
ENST00000423007.6:c.2080A>T	ENSP00000404119.2:p.Ile694Phe
ENST00000677295.2:c.*2367A>T	ENSP00000504346.2:n.*2367A>T
ENST00000678264.2:c.*2206A>T	ENSP00000503157.2:n.*2206A>T
ENST00000682070.1:n.2333A>T
ENST00000682639.1:c.20A>T
ENST00000682813.1:n.2420A>T
ENST00000683231.1:c.20A>T
ENST00000683392.1:n.4615A>T
ENST00000683712.1:n.2428A>T
ENST00000683900.1:n.3923A>T
ENST00000684062.1:n.2689A>T
ENST00000684399.1:c.20A>T
ENST00000684579.1:n.3869A>T
ENST00000341012.12:c.1861A>T	ENSP00000343034.7:p.Ile621Phe
ENST00000372220.5:c.892A>T	ENSP00000361294.5:p.Ile298Phe
ENST00000372228.9:c.2089A>T	ENSP00000361302.3:p.Ile697Phe
ENST00000402686.8:c.2023A>T MANE Select	ENSP00000385797.4:p.Ile675Phe
ENST00000676640.1:c.2023A>T	ENSP00000503281.1:p.Ile675Phe
ENST00000676803.1:c.1084A>T	ENSP00000503093.1:p.Ile362Phe
ENST00000676835.1:c.*1238A>T	ENSP00000502911.1:n.*1238A>T
ENST00000677029.1:c.1567A>T	ENSP00000502936.1:p.Ile523Phe
ENST00000677099.1:c.*1733A>T	ENSP00000504553.1:n.*1733A>T
ENST00000677216.1:c.1672A>T	ENSP00000503772.1:p.Ile558Phe
ENST00000677221.1:n.1048A>T
ENST00000677295.1:c.*1245A>T	ENSP00000504346.1:n.*1245A>T
ENST00000677444.1:c.1968A>T
ENST00000677586.1:n.1390A>T
ENST00000677626.1:c.1672A>T	ENSP00000503552.1:p.Ile558Phe
ENST00000677853.1:c.*1031A>T	ENSP00000503488.1:n.*1031A>T
ENST00000678264.1:c.*1400A>T	ENSP00000503157.1:n.*1400A>T
ENST00000678303.1:c.1933A>T	ENSP00000503696.1:p.Ile645Phe
ENST00000678366.1:c.*2272A>T	ENSP00000504353.1:n.*2272A>T
ENST00000678546.1:c.*1968A>T	ENSP00000503062.1:n.*1968A>T
ENST00000678548.1:c.*2162A>T	ENSP00000503934.1:n.*2162A>T
ENST00000678626.1:n.1859A>T
ENST00000678739.1:c.*2189A>T	ENSP00000503806.1:n.*2189A>T
ENST00000678833.1:c.*1775A>T	ENSP00000503893.1:n.*1775A>T
ENST00000679023.1:c.1861A>T	ENSP00000503718.1:p.Ile621Phe
ENST00000679076.1:c.1642A>T
ENST00000679111.1:c.*779A>T	ENSP00000504257.1:n.*779A>T
ENST00000679189.1:c.1672A>T	ENSP00000503356.1:p.Ile558Phe
ENST00000341012.11:c.1861A>T	ENSP00000343034.7:p.Ile621Phe
ENST00000372220.4:c.886A>T	ENSP00000361294.4:p.Ile296Phe
ENST00000372228.7:c.2089A>T	ENSP00000361302.3:p.Ile697Phe
ENST00000402686.7:c.2023A>T	ENSP00000385797.3:p.Ile675Phe
ENST00000404875.6:c.1672A>T	ENSP00000384531.2:p.Ile558Phe
ENST00000423007.5:c.2023A>T	ENSP00000404119.1:p.Ile675Phe
ENST00000485278.5:n.2573A>T
NM_001077365.1:c.2023A>T	NP_001070833.1:p.Ile675Phe
NM_001077366.1:c.1861A>T	NP_001070834.1:p.Ile621Phe
NM_001136113.1:c.2023A>T	NP_001129585.1:p.Ile675Phe
NM_001136114.1:c.1672A>T	NP_001129586.1:p.Ile558Phe
NM_007171.3:c.2089A>T	NP_009102.3:p.Ile697Phe
XM_005272156.1:c.2089A>T	XP_005272213.1:p.Ile697Phe
XM_005272158.1:c.1927A>T	XP_005272215.1:p.Ile643Phe
XM_005272159.1:c.1738A>T	XP_005272216.1:p.Ile580Phe
XM_005272162.1:c.892A>T	XP_005272219.1:p.Ile298Phe
XM_006716932.1:c.1738A>T	XP_006716995.1:p.Ile580Phe
XM_011518140.1:c.1942A>T	XP_011516442.1:p.Ile648Phe
XM_011518141.1:c.1876A>T	XP_011516443.1:p.Ile626Phe
XM_011518142.1:c.1780A>T	XP_011516444.1:p.Ile594Phe
XM_011518143.1:c.1774A>T	XP_011516445.1:p.Ile592Phe
XM_011518145.1:c.1633A>T	XP_011516447.1:p.Ile545Phe
XM_011518147.1:c.961A>T	XP_011516449.1:p.Ile321Phe
XR_929703.1:n.2265A>T
NM_001353193.1:c.2089A>T	NP_001340122.1:p.Ile697Phe
NM_001353194.1:c.1861A>T	NP_001340123.1:p.Ile621Phe
NM_001353195.1:c.1672A>T	NP_001340124.1:p.Ile558Phe
NM_001353196.1:c.1933A>T	NP_001340125.1:p.Ile645Phe
NM_001353197.1:c.1927A>T	NP_001340126.1:p.Ile643Phe
NM_001353198.1:c.1927A>T	NP_001340127.1:p.Ile643Phe
NM_001353199.1:c.1738A>T	NP_001340128.1:p.Ile580Phe
NM_001353200.1:c.1567A>T	NP_001340129.1:p.Ile523Phe
NR_148391.1:n.2073A>T
NR_148392.1:n.2291A>T
NR_148393.1:n.2212A>T
NR_148394.1:n.1966A>T
NR_148395.1:n.2364A>T
NR_148396.1:n.1998A>T
NR_148397.1:n.2123A>T
NR_148398.1:n.2078A>T
NR_148399.1:n.2604A>T
NR_148400.1:n.2203A>T
XM_005272162.3:c.892A>T	XP_005272219.1:p.Ile298Phe
XM_006716932.2:c.1738A>T	XP_006716995.1:p.Ile580Phe
XM_011518140.2:c.1942A>T	XP_011516442.1:p.Ile648Phe
XM_011518141.2:c.1876A>T	XP_011516443.1:p.Ile626Phe
XM_011518142.2:c.1780A>T	XP_011516444.1:p.Ile594Phe
XM_011518143.2:c.1774A>T	XP_011516445.1:p.Ile592Phe
XM_011518145.2:c.1633A>T	XP_011516447.1:p.Ile545Phe
XM_017014205.2:c.892A>T	XP_016869694.1:p.Ile298Phe
XM_024447380.1:c.892A>T	XP_024303148.1:p.Ile298Phe
XM_024447381.1:c.1198A>T	XP_024303149.1:p.Ile400Phe
XM_024447382.1:c.892A>T	XP_024303150.1:p.Ile298Phe
XR_001746160.2:n.2193A>T
XR_001746162.2:n.2398A>T
XR_001746164.1:n.2115A>T
XR_001746166.2:n.2410A>T
NM_001077365.2:c.2023A>T MANE Select	NP_001070833.1:p.Ile675Phe
NM_001077366.2:c.1861A>T	NP_001070834.1:p.Ile621Phe
NM_001136113.2:c.2023A>T	NP_001129585.1:p.Ile675Phe
NM_001136114.2:c.1672A>T	NP_001129586.1:p.Ile558Phe
NM_001353193.2:c.2089A>T	NP_001340122.2:p.Ile697Phe
NM_001353194.2:c.1861A>T	NP_001340123.1:p.Ile621Phe
NM_001353195.2:c.1672A>T	NP_001340124.1:p.Ile558Phe
NM_001353196.2:c.1933A>T	NP_001340125.1:p.Ile645Phe
NM_001353197.2:c.1927A>T	NP_001340126.2:p.Ile643Phe
NM_001353198.2:c.1927A>T	NP_001340127.2:p.Ile643Phe
NM_001353199.2:c.1738A>T	NP_001340128.2:p.Ile580Phe
NM_001353200.2:c.1567A>T	NP_001340129.1:p.Ile523Phe
NM_001374689.1:c.2011A>T	NP_001361618.1:p.Ile671Phe
NM_001374690.1:c.1804A>T	NP_001361619.1:p.Ile602Phe
NM_001374691.1:c.1672A>T	NP_001361620.1:p.Ile558Phe
NM_001374692.1:c.1672A>T	NP_001361621.1:p.Ile558Phe
NM_001374693.1:c.1672A>T	NP_001361622.1:p.Ile558Phe
NM_001374695.1:c.1633A>T	NP_001361624.1:p.Ile545Phe
NM_007171.4:c.2089A>T	NP_009102.4:p.Ile697Phe
NR_148391.2:n.2057A>T
NR_148392.2:n.2275A>T
NR_148393.2:n.2196A>T
NR_148394.2:n.1950A>T
NR_148395.2:n.2348A>T
NR_148396.2:n.1982A>T
NR_148397.2:n.2107A>T
NR_148398.2:n.2062A>T
NR_148399.2:n.2588A>T
NR_148400.2:n.2187A>T