Canonical Allele Identifier: CA388030389

Gene: ATP7B

Linked Data

• dbSNP Id: rs1335109178
• gnomAD v2: 13-52518378-G-C
• gnomAD v4: 13-51944242-G-C
• MyVariant Identifiers: chr13:g.52518378G>C (hg19) ; chr13:g.51944242G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944242G>C , CM000675.2:g.51944242G>C	GRCh38
NC_000013.10:g.52518378G>C , CM000675.1:g.52518378G>C	GRCh37
NC_000013.9:g.51416379G>C	NCBI36
NG_008806.1:g.72253C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1688C>G	ENSP00000489512.2:n.*894-1688C>G
ENST00000673864.2:c.*1854C>G	ENSP00000501045.2:n.*1854C>G
ENST00000674147.2:c.2489C>G	ENSP00000500964.2:p.Pro830Arg
ENST00000242839.10:c.3110C>G MANE Select	ENSP00000242839.5:p.Pro1037Arg
ENST00000344297.9:c.2489C>G	ENSP00000342559.5:p.Pro830Arg
ENST00000400366.6:c.2777C>G	ENSP00000383217.3:p.Pro926Arg
ENST00000448424.7:c.2858C>G	ENSP00000416738.3:p.Pro953Arg
ENST00000673772.1:c.2876C>G	ENSP00000501168.1:p.Pro959Arg
ENST00000673867.1:n.3249C>G
ENST00000674126.1:n.3473C>G
ENST00000674147.1:c.2045C>G	ENSP00000500964.1:p.Pro682Arg
ENST00000242839.8:c.3110C>G	ENSP00000242839.4:p.Pro1037Arg
ENST00000344297.8:c.2489C>G	ENSP00000342559.5:p.Pro830Arg
ENST00000400366.5:c.2777C>G	ENSP00000383217.3:p.Pro926Arg
ENST00000400370.8:c.1820C>G	ENSP00000383221.3:p.Pro607Arg
ENST00000418097.7:c.2915C>G	ENSP00000393343.2:p.Pro972Arg
ENST00000448424.6:c.2876C>G	ENSP00000416738.2:p.Pro959Arg
ENST00000466629.1:n.330C>G
ENST00000634296.1:c.1022-1688C>G
ENST00000634308.1:c.*211C>G	ENSP00000489234.1:n.*211C>G
ENST00000634620.1:n.3854C>G
ENST00000634810.1:n.2455C>G
ENST00000634844.1:c.2966C>G	ENSP00000489398.1:p.Pro989Arg
ENST00000635406.1:n.456C>G
NM_000053.3:c.3110C>G	NP_000044.2:p.Pro1037Arg
NM_001005918.2:c.2489C>G	NP_001005918.1:p.Pro830Arg
NM_001243182.1:c.2777C>G	NP_001230111.1:p.Pro926Arg
XM_005266423.2:c.3014C>G	XP_005266480.1:p.Pro1005Arg
XM_005266424.3:c.3014C>G	XP_005266481.1:p.Pro1005Arg
XM_005266427.2:c.2876C>G	XP_005266484.1:p.Pro959Arg
XM_005266428.1:c.2858C>G	XP_005266485.1:p.Pro953Arg
XM_005266430.3:c.3110C>G	XP_005266487.1:p.Pro1037Arg
XM_005266431.2:c.3074C>G	XP_005266488.1:p.Pro1025Arg
XM_005266432.2:c.2624C>G	XP_005266489.1:p.Pro875Arg
XM_006719837.2:c.3014C>G	XP_006719900.1:p.Pro1005Arg
XM_006719838.1:c.926C>G	XP_006719901.1:p.Pro309Arg
XM_006719839.1:c.877-1688C>G	XP_006719902.1:n.877-1688C>G
XM_011535117.1:c.3014C>G	XP_011533419.1:p.Pro1005Arg
XM_011535118.1:c.2975C>G	XP_011533420.1:p.Pro992Arg
XM_011535119.1:c.3061-1688C>G	XP_011533421.1:n.3061-1688C>G
XM_011535120.1:c.2696C>G	XP_011533422.1:p.Pro899Arg
XM_011535121.1:c.2731-1688C>G	XP_011533423.1:n.2731-1688C>G
XM_011535122.1:c.1778C>G	XP_011533424.1:p.Pro593Arg
XR_941601.1:n.3329C>G
XR_941602.1:n.3329C>G
XR_941603.1:n.3329C>G
XR_941604.1:n.3329C>G
NM_001330578.1:c.2876C>G	NP_001317507.1:p.Pro959Arg
NM_001330579.1:c.2858C>G	NP_001317508.1:p.Pro953Arg
XM_005266424.4:c.3014C>G	XP_005266481.1:p.Pro1005Arg
XM_005266430.4:c.3110C>G	XP_005266487.1:p.Pro1037Arg
XM_005266431.4:c.3074C>G	XP_005266488.1:p.Pro1025Arg
XM_006719837.3:c.3014C>G	XP_006719900.1:p.Pro1005Arg
XM_011535117.3:c.3014C>G	XP_011533419.1:p.Pro1005Arg
XM_017020627.1:c.3014C>G	XP_016876116.1:p.Pro1005Arg
NM_000053.4:c.3110C>G MANE Select	NP_000044.2:p.Pro1037Arg
NM_001005918.3:c.2489C>G	NP_001005918.1:p.Pro830Arg
NM_001330579.2:c.2858C>G	NP_001317508.1:p.Pro953Arg
NM_001243182.2:c.2777C>G	NP_001230111.1:p.Pro926Arg
NM_001330578.2:c.2876C>G	NP_001317507.1:p.Pro959Arg