Canonical Allele Identifier: CA351339

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3863
• ClinVar RCV Id: RCV000004067
• PubMed: PMID:15845031

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.[51941111C>T;51941194A>G] , CM000675.2:g.[51941111C>T;51941194A>G]	GRCh38
NC_000013.10:g.[52515247C>T;52515330A>G] , CM000675.1:g.[52515247C>T;52515330A>G]	GRCh37
NC_000013.9:g.[51413248C>T;51413331A>G]	NCBI36
NG_008806.1:g.[75301T>C;75384G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.[*1093T>C;*1176G>A]	ENSP00000489512.2:n.[*1093T>C;*1176G>A]
ENST00000673864.2:c.[*2187T>C;*2270G>A]	ENSP00000501045.2:n.[*2187T>C;*2270G>A]
ENST00000674147.2:c.[2822T>C;2905G>A]	ENSP00000500964.2:p.[Ile941Thr;Gly969Arg]...
ENST00000242839.10:c.[3443T>C;3526G>A] MANE Select	ENSP00000242839.5:p.[Ile1148Thr;Gly1176Ar...
ENST00000344297.9:c.[2822T>C;2905G>A]	ENSP00000342559.5:p.[Ile941Thr;Gly969Arg]...
ENST00000400366.6:c.[3110T>C;3193G>A]	ENSP00000383217.3:p.[Ile1037Thr;Gly1065Ar...
ENST00000448424.7:c.[3191T>C;3274G>A]	ENSP00000416738.3:p.[Ile1064Thr;Gly1092Ar...
ENST00000673772.1:c.[3209T>C;3292G>A]	ENSP00000501168.1:p.[Ile1070Thr;Gly1098Ar...
ENST00000673867.1:n.[3582T>C;3665G>A]
ENST00000674126.1:n.[3806T>C;3889G>A]
ENST00000674147.1:c.[2378T>C;2461G>A]	ENSP00000500964.1:p.[Ile793Thr;Gly821Arg]...
ENST00000242839.8:c.[3443T>C;3526G>A]	ENSP00000242839.4:p.[Ile1148Thr;Gly1176Ar...
ENST00000344297.8:c.[2822T>C;2905G>A]	ENSP00000342559.5:p.[Ile941Thr;Gly969Arg]...
ENST00000400366.5:c.[3110T>C;3193G>A]	ENSP00000383217.3:p.[Ile1037Thr;Gly1065Ar...
ENST00000400370.8:c.[2153T>C;2236G>A]	ENSP00000383221.3:p.[Ile718Thr;Gly746Arg]...
ENST00000418097.7:c.[3248T>C;3331G>A]	ENSP00000393343.2:p.[Ile1083Thr;Gly1111Ar...
ENST00000448424.6:c.[3209T>C;3292G>A]	ENSP00000416738.2:p.[Ile1070Thr;Gly1098Ar...
ENST00000634296.1:c.[1221T>C;1304G>A]
ENST00000634308.1:c.[*544T>C;*627G>A]	ENSP00000489234.1:n.[*544T>C;*627G>A]
ENST00000634620.1:n.[4187T>C;4270G>A]
ENST00000634810.1:n.[2788T>C;2871G>A]
ENST00000634844.1:c.[3299T>C;3382G>A]	ENSP00000489398.1:p.[Ile1100Thr;Gly1128Ar...
NM_000053.3:c.[3443T>C;3526G>A]	NP_000044.2:p.[Ile1148Thr;Gly1176Arg]
NM_001005918.2:c.[2822T>C;2905G>A]	NP_001005918.1:p.[Ile941Thr;Gly969Arg]
NM_001243182.1:c.[3110T>C;3193G>A]	NP_001230111.1:p.[Ile1037Thr;Gly1065Arg]
XM_005266423.2:c.[3347T>C;3430G>A]	XP_005266480.1:p.[Ile1116Thr;Gly1144Arg]
XM_005266424.3:c.[3347T>C;3430G>A]	XP_005266481.1:p.[Ile1116Thr;Gly1144Arg]
XM_005266427.2:c.[3209T>C;3292G>A]	XP_005266484.1:p.[Ile1070Thr;Gly1098Arg]
XM_005266428.1:c.[3191T>C;3274G>A]	XP_005266485.1:p.[Ile1064Thr;Gly1092Arg]
XM_005266430.3:c.[3443T>C;3526G>A]	XP_005266487.1:p.[Ile1148Thr;Gly1176Arg]
XM_005266431.2:c.[3407T>C;3490G>A]	XP_005266488.1:p.[Ile1136Thr;Gly1164Arg]
XM_005266432.2:c.[2957T>C;3040G>A]	XP_005266489.1:p.[Ile986Thr;Gly1014Arg]
XM_006719837.2:c.[3347T>C;3430G>A]	XP_006719900.1:p.[Ile1116Thr;Gly1144Arg]
XM_006719838.1:c.[1259T>C;1342G>A]	XP_006719901.1:p.[Ile420Thr;Gly448Arg]
XM_006719839.1:c.[1076T>C;1159G>A]	XP_006719902.1:p.[Ile359Thr;Gly387Arg]
XM_011535117.1:c.[3347T>C;3430G>A]	XP_011533419.1:p.[Ile1116Thr;Gly1144Arg]
XM_011535118.1:c.[3308T>C;3391G>A]	XP_011533420.1:p.[Ile1103Thr;Gly1131Arg]
XM_011535119.1:c.[3260T>C;3343G>A]	XP_011533421.1:p.[Ile1087Thr;Gly1115Arg]
XM_011535120.1:c.[3029T>C;3112G>A]	XP_011533422.1:p.[Ile1010Thr;Gly1038Arg]
XM_011535121.1:c.[2930T>C;3013G>A]	XP_011533423.1:p.[Ile977Thr;Gly1005Arg]
XM_011535122.1:c.[2111T>C;2194G>A]	XP_011533424.1:p.[Ile704Thr;Gly732Arg]
XR_941601.1:n.[3662T>C;3745G>A]
XR_941602.1:n.[3662T>C;3745G>A]
XR_941603.1:n.[3662T>C;3745G>A]
XR_941604.1:n.[3662T>C;3745G>A]
NM_001330578.1:c.[3209T>C;3292G>A]	NP_001317507.1:p.[Ile1070Thr;Gly1098Arg]
NM_001330579.1:c.[3191T>C;3274G>A]	NP_001317508.1:p.[Ile1064Thr;Gly1092Arg]
XM_005266424.4:c.[3347T>C;3430G>A]	XP_005266481.1:p.[Ile1116Thr;Gly1144Arg]
XM_005266430.4:c.[3443T>C;3526G>A]	XP_005266487.1:p.[Ile1148Thr;Gly1176Arg]
XM_005266431.4:c.[3407T>C;3490G>A]	XP_005266488.1:p.[Ile1136Thr;Gly1164Arg]
XM_006719837.3:c.[3347T>C;3430G>A]	XP_006719900.1:p.[Ile1116Thr;Gly1144Arg]
XM_011535117.3:c.[3347T>C;3430G>A]	XP_011533419.1:p.[Ile1116Thr;Gly1144Arg]
XM_017020627.1:c.[3347T>C;3430G>A]	XP_016876116.1:p.[Ile1116Thr;Gly1144Arg]
NM_000053.4:c.[3443T>C;3526G>A] MANE Select	NP_000044.2:p.[Ile1148Thr;Gly1176Arg]
NM_001005918.3:c.[2822T>C;2905G>A]	NP_001005918.1:p.[Ile941Thr;Gly969Arg]
NM_001330579.2:c.[3191T>C;3274G>A]	NP_001317508.1:p.[Ile1064Thr;Gly1092Arg]
NM_001243182.2:c.[3110T>C;3193G>A]	NP_001230111.1:p.[Ile1037Thr;Gly1065Arg]
NM_001330578.2:c.[3209T>C;3292G>A]	NP_001317507.1:p.[Ile1070Thr;Gly1098Arg]