Canonical Allele Identifier: CA388032298

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946393-G-A
• COSMIC: COSM3885416
• MyVariant Identifiers: chr13:g.52520529G>A (hg19) ; chr13:g.51946393G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946393G>A , CM000675.2:g.51946393G>A	GRCh38
NC_000013.10:g.52520529G>A , CM000675.1:g.52520529G>A	GRCh37
NC_000013.9:g.51418530G>A	NCBI36
NG_008806.1:g.70102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*784C>T	ENSP00000489512.2:n.*784C>T
ENST00000673864.2:c.*1695C>T	ENSP00000501045.2:n.*1695C>T
ENST00000674147.2:c.2330C>T	ENSP00000500964.2:p.Pro777Leu
ENST00000242839.10:c.2951C>T MANE Select	ENSP00000242839.5:p.Pro984Leu
ENST00000344297.9:c.2330C>T	ENSP00000342559.5:p.Pro777Leu
ENST00000400366.6:c.2618C>T	ENSP00000383217.3:p.Pro873Leu
ENST00000448424.7:c.2699C>T	ENSP00000416738.3:p.Pro900Leu
ENST00000673772.1:c.2717C>T	ENSP00000501168.1:p.Pro906Leu
ENST00000673867.1:n.1098C>T
ENST00000674126.1:n.3314C>T
ENST00000674147.1:c.1886C>T	ENSP00000500964.1:p.Pro629Leu
ENST00000242839.8:c.2951C>T	ENSP00000242839.4:p.Pro984Leu
ENST00000344297.8:c.2330C>T	ENSP00000342559.5:p.Pro777Leu
ENST00000400366.5:c.2618C>T	ENSP00000383217.3:p.Pro873Leu
ENST00000400370.8:c.1661C>T	ENSP00000383221.3:p.Pro554Leu
ENST00000418097.7:c.2866-2102C>T	ENSP00000393343.2:n.2866-2102C>T
ENST00000448424.6:c.2717C>T	ENSP00000416738.2:p.Pro906Leu
ENST00000466629.1:n.171C>T
ENST00000634296.1:c.912C>T
ENST00000634308.1:c.*52C>T	ENSP00000489234.1:n.*52C>T
ENST00000634620.1:n.3695C>T
ENST00000634810.1:n.2296C>T
ENST00000634844.1:c.2807C>T	ENSP00000489398.1:p.Pro936Leu
ENST00000635406.1:n.297C>T
NM_000053.3:c.2951C>T	NP_000044.2:p.Pro984Leu
NM_001005918.2:c.2330C>T	NP_001005918.1:p.Pro777Leu
NM_001243182.1:c.2618C>T	NP_001230111.1:p.Pro873Leu
XM_005266423.2:c.2855C>T	XP_005266480.1:p.Pro952Leu
XM_005266424.3:c.2855C>T	XP_005266481.1:p.Pro952Leu
XM_005266427.2:c.2717C>T	XP_005266484.1:p.Pro906Leu
XM_005266428.1:c.2699C>T	XP_005266485.1:p.Pro900Leu
XM_005266430.3:c.2951C>T	XP_005266487.1:p.Pro984Leu
XM_005266431.2:c.2915C>T	XP_005266488.1:p.Pro972Leu
XM_005266432.2:c.2465C>T	XP_005266489.1:p.Pro822Leu
XM_006719837.2:c.2855C>T	XP_006719900.1:p.Pro952Leu
XM_006719838.1:c.767C>T	XP_006719901.1:p.Pro256Leu
XM_006719839.1:c.767C>T	XP_006719902.1:p.Pro256Leu
XM_011535117.1:c.2855C>T	XP_011533419.1:p.Pro952Leu
XM_011535118.1:c.2816C>T	XP_011533420.1:p.Pro939Leu
XM_011535119.1:c.2951C>T	XP_011533421.1:p.Pro984Leu
XM_011535120.1:c.2537C>T	XP_011533422.1:p.Pro846Leu
XM_011535121.1:c.2730+3614C>T	XP_011533423.1:n.2730+3614C>T
XM_011535122.1:c.1619C>T	XP_011533424.1:p.Pro540Leu
XR_941601.1:n.3170C>T
XR_941602.1:n.3170C>T
XR_941603.1:n.3170C>T
XR_941604.1:n.3170C>T
NM_001330578.1:c.2717C>T	NP_001317507.1:p.Pro906Leu
NM_001330579.1:c.2699C>T	NP_001317508.1:p.Pro900Leu
XM_005266424.4:c.2855C>T	XP_005266481.1:p.Pro952Leu
XM_005266430.4:c.2951C>T	XP_005266487.1:p.Pro984Leu
XM_005266431.4:c.2915C>T	XP_005266488.1:p.Pro972Leu
XM_006719837.3:c.2855C>T	XP_006719900.1:p.Pro952Leu
XM_011535117.3:c.2855C>T	XP_011533419.1:p.Pro952Leu
XM_017020627.1:c.2855C>T	XP_016876116.1:p.Pro952Leu
NM_000053.4:c.2951C>T MANE Select	NP_000044.2:p.Pro984Leu
NM_001005918.3:c.2330C>T	NP_001005918.1:p.Pro777Leu
NM_001330579.2:c.2699C>T	NP_001317508.1:p.Pro900Leu
NM_001243182.2:c.2618C>T	NP_001230111.1:p.Pro873Leu
NM_001330578.2:c.2717C>T	NP_001317507.1:p.Pro906Leu