Canonical Allele Identifier: CA467424148

Gene: POMT1

Linked Data

• gnomAD v4: 9-131522953-C-T
• MyVariant Identifiers: chr9:g.134398340C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522953C>T , CM000671.2:g.131522953C>T	GRCh38
NC_000009.11:g.134398340C>T , CM000671.1:g.134398340C>T	GRCh37
NC_000009.10:g.133388161C>T	NCBI36
NG_008896.1:g.25052C>T
NG_008896.2:g.25052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1863C>T	ENSP00000343034.7:p.Ile621=
ENST00000404875.7:n.2565C>T
ENST00000423007.6:c.2082C>T	ENSP00000404119.2:p.Ile694=
ENST00000677295.2:c.*2369C>T	ENSP00000504346.2:n.*2369C>T
ENST00000678264.2:c.*2208C>T	ENSP00000503157.2:n.*2208C>T
ENST00000682070.1:n.2335C>T
ENST00000682639.1:c.22C>T
ENST00000682813.1:n.2422C>T
ENST00000683231.1:c.22C>T
ENST00000683392.1:n.4617C>T
ENST00000683712.1:n.2430C>T
ENST00000683900.1:n.3925C>T
ENST00000684062.1:n.2691C>T
ENST00000684399.1:c.22C>T
ENST00000684579.1:n.3871C>T
ENST00000341012.12:c.1863C>T	ENSP00000343034.7:p.Ile621=
ENST00000372220.5:c.894C>T	ENSP00000361294.5:p.Ile298=
ENST00000372228.9:c.2091C>T	ENSP00000361302.3:p.Ile697=
ENST00000402686.8:c.2025C>T MANE Select	ENSP00000385797.4:p.Ile675=
ENST00000676640.1:c.2025C>T	ENSP00000503281.1:p.Ile675=
ENST00000676803.1:c.1086C>T	ENSP00000503093.1:p.Ile362=
ENST00000676835.1:c.*1240C>T	ENSP00000502911.1:n.*1240C>T
ENST00000677029.1:c.1569C>T	ENSP00000502936.1:p.Ile523=
ENST00000677099.1:c.*1735C>T	ENSP00000504553.1:n.*1735C>T
ENST00000677216.1:c.1674C>T	ENSP00000503772.1:p.Ile558=
ENST00000677221.1:n.1050C>T
ENST00000677295.1:c.*1247C>T	ENSP00000504346.1:n.*1247C>T
ENST00000677444.1:c.1970C>T
ENST00000677586.1:n.1392C>T
ENST00000677626.1:c.1674C>T	ENSP00000503552.1:p.Ile558=
ENST00000677853.1:c.*1033C>T	ENSP00000503488.1:n.*1033C>T
ENST00000678264.1:c.*1402C>T	ENSP00000503157.1:n.*1402C>T
ENST00000678303.1:c.1935C>T	ENSP00000503696.1:p.Ile645=
ENST00000678366.1:c.*2274C>T	ENSP00000504353.1:n.*2274C>T
ENST00000678546.1:c.*1970C>T	ENSP00000503062.1:n.*1970C>T
ENST00000678548.1:c.*2164C>T	ENSP00000503934.1:n.*2164C>T
ENST00000678626.1:n.1861C>T
ENST00000678739.1:c.*2191C>T	ENSP00000503806.1:n.*2191C>T
ENST00000678833.1:c.*1777C>T	ENSP00000503893.1:n.*1777C>T
ENST00000679023.1:c.1863C>T	ENSP00000503718.1:p.Ile621=
ENST00000679076.1:c.1644C>T
ENST00000679111.1:c.*781C>T	ENSP00000504257.1:n.*781C>T
ENST00000679189.1:c.1674C>T	ENSP00000503356.1:p.Ile558=
ENST00000341012.11:c.1863C>T	ENSP00000343034.7:p.Ile621=
ENST00000372220.4:c.888C>T	ENSP00000361294.4:p.Ile296=
ENST00000372228.7:c.2091C>T	ENSP00000361302.3:p.Ile697=
ENST00000402686.7:c.2025C>T	ENSP00000385797.3:p.Ile675=
ENST00000404875.6:c.1674C>T	ENSP00000384531.2:p.Ile558=
ENST00000423007.5:c.2025C>T	ENSP00000404119.1:p.Ile675=
ENST00000485278.5:n.2575C>T
NM_001077365.1:c.2025C>T	NP_001070833.1:p.Ile675=
NM_001077366.1:c.1863C>T	NP_001070834.1:p.Ile621=
NM_001136113.1:c.2025C>T	NP_001129585.1:p.Ile675=
NM_001136114.1:c.1674C>T	NP_001129586.1:p.Ile558=
NM_007171.3:c.2091C>T	NP_009102.3:p.Ile697=
XM_005272156.1:c.2091C>T	XP_005272213.1:p.Ile697=
XM_005272158.1:c.1929C>T	XP_005272215.1:p.Ile643=
XM_005272159.1:c.1740C>T	XP_005272216.1:p.Ile580=
XM_005272162.1:c.894C>T	XP_005272219.1:p.Ile298=
XM_006716932.1:c.1740C>T	XP_006716995.1:p.Ile580=
XM_011518140.1:c.1944C>T	XP_011516442.1:p.Ile648=
XM_011518141.1:c.1878C>T	XP_011516443.1:p.Ile626=
XM_011518142.1:c.1782C>T	XP_011516444.1:p.Ile594=
XM_011518143.1:c.1776C>T	XP_011516445.1:p.Ile592=
XM_011518145.1:c.1635C>T	XP_011516447.1:p.Ile545=
XM_011518147.1:c.963C>T	XP_011516449.1:p.Ile321=
XR_929703.1:n.2267C>T
NM_001353193.1:c.2091C>T	NP_001340122.1:p.Ile697=
NM_001353194.1:c.1863C>T	NP_001340123.1:p.Ile621=
NM_001353195.1:c.1674C>T	NP_001340124.1:p.Ile558=
NM_001353196.1:c.1935C>T	NP_001340125.1:p.Ile645=
NM_001353197.1:c.1929C>T	NP_001340126.1:p.Ile643=
NM_001353198.1:c.1929C>T	NP_001340127.1:p.Ile643=
NM_001353199.1:c.1740C>T	NP_001340128.1:p.Ile580=
NM_001353200.1:c.1569C>T	NP_001340129.1:p.Ile523=
NR_148391.1:n.2075C>T
NR_148392.1:n.2293C>T
NR_148393.1:n.2214C>T
NR_148394.1:n.1968C>T
NR_148395.1:n.2366C>T
NR_148396.1:n.2000C>T
NR_148397.1:n.2125C>T
NR_148398.1:n.2080C>T
NR_148399.1:n.2606C>T
NR_148400.1:n.2205C>T
XM_005272162.3:c.894C>T	XP_005272219.1:p.Ile298=
XM_006716932.2:c.1740C>T	XP_006716995.1:p.Ile580=
XM_011518140.2:c.1944C>T	XP_011516442.1:p.Ile648=
XM_011518141.2:c.1878C>T	XP_011516443.1:p.Ile626=
XM_011518142.2:c.1782C>T	XP_011516444.1:p.Ile594=
XM_011518143.2:c.1776C>T	XP_011516445.1:p.Ile592=
XM_011518145.2:c.1635C>T	XP_011516447.1:p.Ile545=
XM_017014205.2:c.894C>T	XP_016869694.1:p.Ile298=
XM_024447380.1:c.894C>T	XP_024303148.1:p.Ile298=
XM_024447381.1:c.1200C>T	XP_024303149.1:p.Ile400=
XM_024447382.1:c.894C>T	XP_024303150.1:p.Ile298=
XR_001746160.2:n.2195C>T
XR_001746162.2:n.2400C>T
XR_001746164.1:n.2117C>T
XR_001746166.2:n.2412C>T
NM_001077365.2:c.2025C>T MANE Select	NP_001070833.1:p.Ile675=
NM_001077366.2:c.1863C>T	NP_001070834.1:p.Ile621=
NM_001136113.2:c.2025C>T	NP_001129585.1:p.Ile675=
NM_001136114.2:c.1674C>T	NP_001129586.1:p.Ile558=
NM_001353193.2:c.2091C>T	NP_001340122.2:p.Ile697=
NM_001353194.2:c.1863C>T	NP_001340123.1:p.Ile621=
NM_001353195.2:c.1674C>T	NP_001340124.1:p.Ile558=
NM_001353196.2:c.1935C>T	NP_001340125.1:p.Ile645=
NM_001353197.2:c.1929C>T	NP_001340126.2:p.Ile643=
NM_001353198.2:c.1929C>T	NP_001340127.2:p.Ile643=
NM_001353199.2:c.1740C>T	NP_001340128.2:p.Ile580=
NM_001353200.2:c.1569C>T	NP_001340129.1:p.Ile523=
NM_001374689.1:c.2013C>T	NP_001361618.1:p.Ile671=
NM_001374690.1:c.1806C>T	NP_001361619.1:p.Ile602=
NM_001374691.1:c.1674C>T	NP_001361620.1:p.Ile558=
NM_001374692.1:c.1674C>T	NP_001361621.1:p.Ile558=
NM_001374693.1:c.1674C>T	NP_001361622.1:p.Ile558=
NM_001374695.1:c.1635C>T	NP_001361624.1:p.Ile545=
NM_007171.4:c.2091C>T	NP_009102.4:p.Ile697=
NR_148391.2:n.2059C>T
NR_148392.2:n.2277C>T
NR_148393.2:n.2198C>T
NR_148394.2:n.1952C>T
NR_148395.2:n.2350C>T
NR_148396.2:n.1984C>T
NR_148397.2:n.2109C>T
NR_148398.2:n.2064C>T
NR_148399.2:n.2590C>T
NR_148400.2:n.2189C>T