Canonical Allele Identifier: CA388026029

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2794286
• ClinVar RCV Id: RCV003609543
• gnomAD v4: 13-51941105-T-G
• MyVariant Identifiers: chr13:g.52515241T>G (hg19) ; chr13:g.51941105T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941105T>G , CM000675.2:g.51941105T>G	GRCh38
NC_000013.10:g.52515241T>G , CM000675.1:g.52515241T>G	GRCh37
NC_000013.9:g.51413242T>G	NCBI36
NG_008806.1:g.75390A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1182A>C	ENSP00000489512.2:n.*1182A>C
ENST00000673864.2:c.*2276A>C	ENSP00000501045.2:n.*2276A>C
ENST00000674147.2:c.2911A>C	ENSP00000500964.2:p.Thr971Pro
ENST00000242839.10:c.3532A>C MANE Select	ENSP00000242839.5:p.Thr1178Pro
ENST00000344297.9:c.2911A>C	ENSP00000342559.5:p.Thr971Pro
ENST00000400366.6:c.3199A>C	ENSP00000383217.3:p.Thr1067Pro
ENST00000448424.7:c.3280A>C	ENSP00000416738.3:p.Thr1094Pro
ENST00000673772.1:c.3298A>C	ENSP00000501168.1:p.Thr1100Pro
ENST00000673867.1:n.3671A>C
ENST00000674126.1:n.3895A>C
ENST00000674147.1:c.2467A>C	ENSP00000500964.1:p.Thr823Pro
ENST00000242839.8:c.3532A>C	ENSP00000242839.4:p.Thr1178Pro
ENST00000344297.8:c.2911A>C	ENSP00000342559.5:p.Thr971Pro
ENST00000400366.5:c.3199A>C	ENSP00000383217.3:p.Thr1067Pro
ENST00000400370.8:c.2242A>C	ENSP00000383221.3:p.Thr748Pro
ENST00000418097.7:c.3337A>C	ENSP00000393343.2:p.Thr1113Pro
ENST00000448424.6:c.3298A>C	ENSP00000416738.2:p.Thr1100Pro
ENST00000634296.1:c.1310A>C
ENST00000634308.1:c.*633A>C	ENSP00000489234.1:n.*633A>C
ENST00000634620.1:n.4276A>C
ENST00000634810.1:n.2877A>C
ENST00000634844.1:c.3388A>C	ENSP00000489398.1:p.Thr1130Pro
NM_000053.3:c.3532A>C	NP_000044.2:p.Thr1178Pro
NM_001005918.2:c.2911A>C	NP_001005918.1:p.Thr971Pro
NM_001243182.1:c.3199A>C	NP_001230111.1:p.Thr1067Pro
XM_005266423.2:c.3436A>C	XP_005266480.1:p.Thr1146Pro
XM_005266424.3:c.3436A>C	XP_005266481.1:p.Thr1146Pro
XM_005266427.2:c.3298A>C	XP_005266484.1:p.Thr1100Pro
XM_005266428.1:c.3280A>C	XP_005266485.1:p.Thr1094Pro
XM_005266430.3:c.3532A>C	XP_005266487.1:p.Thr1178Pro
XM_005266431.2:c.3496A>C	XP_005266488.1:p.Thr1166Pro
XM_005266432.2:c.3046A>C	XP_005266489.1:p.Thr1016Pro
XM_006719837.2:c.3436A>C	XP_006719900.1:p.Thr1146Pro
XM_006719838.1:c.1348A>C	XP_006719901.1:p.Thr450Pro
XM_006719839.1:c.1165A>C	XP_006719902.1:p.Thr389Pro
XM_011535117.1:c.3436A>C	XP_011533419.1:p.Thr1146Pro
XM_011535118.1:c.3397A>C	XP_011533420.1:p.Thr1133Pro
XM_011535119.1:c.3349A>C	XP_011533421.1:p.Thr1117Pro
XM_011535120.1:c.3118A>C	XP_011533422.1:p.Thr1040Pro
XM_011535121.1:c.3019A>C	XP_011533423.1:p.Thr1007Pro
XM_011535122.1:c.2200A>C	XP_011533424.1:p.Thr734Pro
XR_941601.1:n.3751A>C
XR_941602.1:n.3751A>C
XR_941603.1:n.3751A>C
XR_941604.1:n.3751A>C
NM_001330578.1:c.3298A>C	NP_001317507.1:p.Thr1100Pro
NM_001330579.1:c.3280A>C	NP_001317508.1:p.Thr1094Pro
XM_005266424.4:c.3436A>C	XP_005266481.1:p.Thr1146Pro
XM_005266430.4:c.3532A>C	XP_005266487.1:p.Thr1178Pro
XM_005266431.4:c.3496A>C	XP_005266488.1:p.Thr1166Pro
XM_006719837.3:c.3436A>C	XP_006719900.1:p.Thr1146Pro
XM_011535117.3:c.3436A>C	XP_011533419.1:p.Thr1146Pro
XM_017020627.1:c.3436A>C	XP_016876116.1:p.Thr1146Pro
NM_000053.4:c.3532A>C MANE Select	NP_000044.2:p.Thr1178Pro
NM_001005918.3:c.2911A>C	NP_001005918.1:p.Thr971Pro
NM_001330579.2:c.3280A>C	NP_001317508.1:p.Thr1094Pro
NM_001243182.2:c.3199A>C	NP_001230111.1:p.Thr1067Pro
NM_001330578.2:c.3298A>C	NP_001317507.1:p.Thr1100Pro