Canonical Allele Identifier: CA388032099

Gene: ATP7B

Linked Data

• dbSNP Id: rs1593681041
• MyVariant Identifiers: chr13:g.52520485T>G (hg19) ; chr13:g.51946349T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946349T>G , CM000675.2:g.51946349T>G	GRCh38
NC_000013.10:g.52520485T>G , CM000675.1:g.52520485T>G	GRCh37
NC_000013.9:g.51418486T>G	NCBI36
NG_008806.1:g.70146A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*828A>C	ENSP00000489512.2:n.*828A>C
ENST00000673864.2:c.*1739A>C	ENSP00000501045.2:n.*1739A>C
ENST00000674147.2:c.2374A>C	ENSP00000500964.2:p.Thr792Pro
ENST00000242839.10:c.2995A>C MANE Select	ENSP00000242839.5:p.Thr999Pro
ENST00000344297.9:c.2374A>C	ENSP00000342559.5:p.Thr792Pro
ENST00000400366.6:c.2662A>C	ENSP00000383217.3:p.Thr888Pro
ENST00000448424.7:c.2743A>C	ENSP00000416738.3:p.Thr915Pro
ENST00000673772.1:c.2761A>C	ENSP00000501168.1:p.Thr921Pro
ENST00000673867.1:n.1142A>C
ENST00000674126.1:n.3358A>C
ENST00000674147.1:c.1930A>C	ENSP00000500964.1:p.Thr644Pro
ENST00000242839.8:c.2995A>C	ENSP00000242839.4:p.Thr999Pro
ENST00000344297.8:c.2374A>C	ENSP00000342559.5:p.Thr792Pro
ENST00000400366.5:c.2662A>C	ENSP00000383217.3:p.Thr888Pro
ENST00000400370.8:c.1705A>C	ENSP00000383221.3:p.Thr569Pro
ENST00000418097.7:c.2866-2058A>C	ENSP00000393343.2:n.2866-2058A>C
ENST00000448424.6:c.2761A>C	ENSP00000416738.2:p.Thr921Pro
ENST00000466629.1:n.215A>C
ENST00000634296.1:c.956A>C
ENST00000634308.1:c.*96A>C	ENSP00000489234.1:n.*96A>C
ENST00000634620.1:n.3739A>C
ENST00000634810.1:n.2340A>C
ENST00000634844.1:c.2851A>C	ENSP00000489398.1:p.Thr951Pro
ENST00000635406.1:n.341A>C
NM_000053.3:c.2995A>C	NP_000044.2:p.Thr999Pro
NM_001005918.2:c.2374A>C	NP_001005918.1:p.Thr792Pro
NM_001243182.1:c.2662A>C	NP_001230111.1:p.Thr888Pro
XM_005266423.2:c.2899A>C	XP_005266480.1:p.Thr967Pro
XM_005266424.3:c.2899A>C	XP_005266481.1:p.Thr967Pro
XM_005266427.2:c.2761A>C	XP_005266484.1:p.Thr921Pro
XM_005266428.1:c.2743A>C	XP_005266485.1:p.Thr915Pro
XM_005266430.3:c.2995A>C	XP_005266487.1:p.Thr999Pro
XM_005266431.2:c.2959A>C	XP_005266488.1:p.Thr987Pro
XM_005266432.2:c.2509A>C	XP_005266489.1:p.Thr837Pro
XM_006719837.2:c.2899A>C	XP_006719900.1:p.Thr967Pro
XM_006719838.1:c.811A>C	XP_006719901.1:p.Thr271Pro
XM_006719839.1:c.811A>C	XP_006719902.1:p.Thr271Pro
XM_011535117.1:c.2899A>C	XP_011533419.1:p.Thr967Pro
XM_011535118.1:c.2860A>C	XP_011533420.1:p.Thr954Pro
XM_011535119.1:c.2995A>C	XP_011533421.1:p.Thr999Pro
XM_011535120.1:c.2581A>C	XP_011533422.1:p.Thr861Pro
XM_011535121.1:c.2730+3658A>C	XP_011533423.1:n.2730+3658A>C
XM_011535122.1:c.1663A>C	XP_011533424.1:p.Thr555Pro
XR_941601.1:n.3214A>C
XR_941602.1:n.3214A>C
XR_941603.1:n.3214A>C
XR_941604.1:n.3214A>C
NM_001330578.1:c.2761A>C	NP_001317507.1:p.Thr921Pro
NM_001330579.1:c.2743A>C	NP_001317508.1:p.Thr915Pro
XM_005266424.4:c.2899A>C	XP_005266481.1:p.Thr967Pro
XM_005266430.4:c.2995A>C	XP_005266487.1:p.Thr999Pro
XM_005266431.4:c.2959A>C	XP_005266488.1:p.Thr987Pro
XM_006719837.3:c.2899A>C	XP_006719900.1:p.Thr967Pro
XM_011535117.3:c.2899A>C	XP_011533419.1:p.Thr967Pro
XM_017020627.1:c.2899A>C	XP_016876116.1:p.Thr967Pro
NM_000053.4:c.2995A>C MANE Select	NP_000044.2:p.Thr999Pro
NM_001005918.3:c.2374A>C	NP_001005918.1:p.Thr792Pro
NM_001330579.2:c.2743A>C	NP_001317508.1:p.Thr915Pro
NM_001243182.2:c.2662A>C	NP_001230111.1:p.Thr888Pro
NM_001330578.2:c.2761A>C	NP_001317507.1:p.Thr921Pro