Canonical Allele Identifier: CA250077094

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 977075
• ClinVar RCV Id: RCV001254597 ; RCV001751521 ; RCV002451623
• dbSNP Id: rs755817220
• gnomAD v2: 13-52515222-A-G
• gnomAD v4: 13-51941086-A-G
• MyVariant Identifiers: chr13:g.52515222A>G (hg19) ; chr13:g.51941086A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941086A>G , CM000675.2:g.51941086A>G	GRCh38
NC_000013.10:g.52515222A>G , CM000675.1:g.52515222A>G	GRCh37
NC_000013.9:g.51413223A>G	NCBI36
NG_008806.1:g.75409T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1201T>C	ENSP00000489512.2:n.*1201T>C
ENST00000673864.2:c.*2295T>C	ENSP00000501045.2:n.*2295T>C
ENST00000674147.2:c.2930T>C	ENSP00000500964.2:p.Ile977Thr
ENST00000242839.10:c.3551T>C MANE Select	ENSP00000242839.5:p.Ile1184Thr
ENST00000344297.9:c.2930T>C	ENSP00000342559.5:p.Ile977Thr
ENST00000400366.6:c.3218T>C	ENSP00000383217.3:p.Ile1073Thr
ENST00000448424.7:c.3299T>C	ENSP00000416738.3:p.Ile1100Thr
ENST00000673772.1:c.3317T>C	ENSP00000501168.1:p.Ile1106Thr
ENST00000673867.1:n.3690T>C
ENST00000674126.1:n.3914T>C
ENST00000674147.1:c.2486T>C	ENSP00000500964.1:p.Ile829Thr
ENST00000242839.8:c.3551T>C	ENSP00000242839.4:p.Ile1184Thr
ENST00000344297.8:c.2930T>C	ENSP00000342559.5:p.Ile977Thr
ENST00000400366.5:c.3218T>C	ENSP00000383217.3:p.Ile1073Thr
ENST00000400370.8:c.2261T>C	ENSP00000383221.3:p.Ile754Thr
ENST00000418097.7:c.3356T>C	ENSP00000393343.2:p.Ile1119Thr
ENST00000448424.6:c.3317T>C	ENSP00000416738.2:p.Ile1106Thr
ENST00000634296.1:c.1329T>C
ENST00000634308.1:c.*652T>C	ENSP00000489234.1:n.*652T>C
ENST00000634620.1:n.4295T>C
ENST00000634810.1:n.2896T>C
ENST00000634844.1:c.3407T>C	ENSP00000489398.1:p.Ile1136Thr
NM_000053.3:c.3551T>C	NP_000044.2:p.Ile1184Thr
NM_001005918.2:c.2930T>C	NP_001005918.1:p.Ile977Thr
NM_001243182.1:c.3218T>C	NP_001230111.1:p.Ile1073Thr
XM_005266423.2:c.3455T>C	XP_005266480.1:p.Ile1152Thr
XM_005266424.3:c.3455T>C	XP_005266481.1:p.Ile1152Thr
XM_005266427.2:c.3317T>C	XP_005266484.1:p.Ile1106Thr
XM_005266428.1:c.3299T>C	XP_005266485.1:p.Ile1100Thr
XM_005266430.3:c.3551T>C	XP_005266487.1:p.Ile1184Thr
XM_005266431.2:c.3515T>C	XP_005266488.1:p.Ile1172Thr
XM_005266432.2:c.3065T>C	XP_005266489.1:p.Ile1022Thr
XM_006719837.2:c.3455T>C	XP_006719900.1:p.Ile1152Thr
XM_006719838.1:c.1367T>C	XP_006719901.1:p.Ile456Thr
XM_006719839.1:c.1184T>C	XP_006719902.1:p.Ile395Thr
XM_011535117.1:c.3455T>C	XP_011533419.1:p.Ile1152Thr
XM_011535118.1:c.3416T>C	XP_011533420.1:p.Ile1139Thr
XM_011535119.1:c.3368T>C	XP_011533421.1:p.Ile1123Thr
XM_011535120.1:c.3137T>C	XP_011533422.1:p.Ile1046Thr
XM_011535121.1:c.3038T>C	XP_011533423.1:p.Ile1013Thr
XM_011535122.1:c.2219T>C	XP_011533424.1:p.Ile740Thr
XR_941601.1:n.3770T>C
XR_941602.1:n.3770T>C
XR_941603.1:n.3770T>C
XR_941604.1:n.3770T>C
NM_001330578.1:c.3317T>C	NP_001317507.1:p.Ile1106Thr
NM_001330579.1:c.3299T>C	NP_001317508.1:p.Ile1100Thr
XM_005266424.4:c.3455T>C	XP_005266481.1:p.Ile1152Thr
XM_005266430.4:c.3551T>C	XP_005266487.1:p.Ile1184Thr
XM_005266431.4:c.3515T>C	XP_005266488.1:p.Ile1172Thr
XM_006719837.3:c.3455T>C	XP_006719900.1:p.Ile1152Thr
XM_011535117.3:c.3455T>C	XP_011533419.1:p.Ile1152Thr
XM_017020627.1:c.3455T>C	XP_016876116.1:p.Ile1152Thr
NM_000053.4:c.3551T>C MANE Select	NP_000044.2:p.Ile1184Thr
NM_001005918.3:c.2930T>C	NP_001005918.1:p.Ile977Thr
NM_001330579.2:c.3299T>C	NP_001317508.1:p.Ile1100Thr
NM_001243182.2:c.3218T>C	NP_001230111.1:p.Ile1073Thr
NM_001330578.2:c.3317T>C	NP_001317507.1:p.Ile1106Thr