Canonical Allele Identifier: CA388030388

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518378G>A (hg19) ; chr13:g.51944242G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1688C>T	ENSP00000489512.2:n.*894-1688C>T
ENST00000673864.2:c.*1854C>T	ENSP00000501045.2:n.*1854C>T
ENST00000674147.2:c.2489C>T	ENSP00000500964.2:p.Pro830Leu
ENST00000242839.10:c.3110C>T MANE Select	ENSP00000242839.5:p.Pro1037Leu
ENST00000344297.9:c.2489C>T	ENSP00000342559.5:p.Pro830Leu
ENST00000400366.6:c.2777C>T	ENSP00000383217.3:p.Pro926Leu
ENST00000448424.7:c.2858C>T	ENSP00000416738.3:p.Pro953Leu
ENST00000673772.1:c.2876C>T	ENSP00000501168.1:p.Pro959Leu
ENST00000673867.1:n.3249C>T
ENST00000674126.1:n.3473C>T
ENST00000674147.1:c.2045C>T	ENSP00000500964.1:p.Pro682Leu
ENST00000242839.8:c.3110C>T	ENSP00000242839.4:p.Pro1037Leu
ENST00000344297.8:c.2489C>T	ENSP00000342559.5:p.Pro830Leu
ENST00000400366.5:c.2777C>T	ENSP00000383217.3:p.Pro926Leu
ENST00000400370.8:c.1820C>T	ENSP00000383221.3:p.Pro607Leu
ENST00000418097.7:c.2915C>T	ENSP00000393343.2:p.Pro972Leu
ENST00000448424.6:c.2876C>T	ENSP00000416738.2:p.Pro959Leu
ENST00000466629.1:n.330C>T
ENST00000634296.1:c.1022-1688C>T
ENST00000634308.1:c.*211C>T	ENSP00000489234.1:n.*211C>T
ENST00000634620.1:n.3854C>T
ENST00000634810.1:n.2455C>T
ENST00000634844.1:c.2966C>T	ENSP00000489398.1:p.Pro989Leu
ENST00000635406.1:n.456C>T
NM_000053.3:c.3110C>T	NP_000044.2:p.Pro1037Leu
NM_001005918.2:c.2489C>T	NP_001005918.1:p.Pro830Leu
NM_001243182.1:c.2777C>T	NP_001230111.1:p.Pro926Leu
XM_005266423.2:c.3014C>T	XP_005266480.1:p.Pro1005Leu
XM_005266424.3:c.3014C>T	XP_005266481.1:p.Pro1005Leu
XM_005266427.2:c.2876C>T	XP_005266484.1:p.Pro959Leu
XM_005266428.1:c.2858C>T	XP_005266485.1:p.Pro953Leu
XM_005266430.3:c.3110C>T	XP_005266487.1:p.Pro1037Leu
XM_005266431.2:c.3074C>T	XP_005266488.1:p.Pro1025Leu
XM_005266432.2:c.2624C>T	XP_005266489.1:p.Pro875Leu
XM_006719837.2:c.3014C>T	XP_006719900.1:p.Pro1005Leu
XM_006719838.1:c.926C>T	XP_006719901.1:p.Pro309Leu
XM_006719839.1:c.877-1688C>T	XP_006719902.1:n.877-1688C>T
XM_011535117.1:c.3014C>T	XP_011533419.1:p.Pro1005Leu
XM_011535118.1:c.2975C>T	XP_011533420.1:p.Pro992Leu
XM_011535119.1:c.3061-1688C>T	XP_011533421.1:n.3061-1688C>T
XM_011535120.1:c.2696C>T	XP_011533422.1:p.Pro899Leu
XM_011535121.1:c.2731-1688C>T	XP_011533423.1:n.2731-1688C>T
XM_011535122.1:c.1778C>T	XP_011533424.1:p.Pro593Leu
XR_941601.1:n.3329C>T
XR_941602.1:n.3329C>T
XR_941603.1:n.3329C>T
XR_941604.1:n.3329C>T
NM_001330578.1:c.2876C>T	NP_001317507.1:p.Pro959Leu
NM_001330579.1:c.2858C>T	NP_001317508.1:p.Pro953Leu
XM_005266424.4:c.3014C>T	XP_005266481.1:p.Pro1005Leu
XM_005266430.4:c.3110C>T	XP_005266487.1:p.Pro1037Leu
XM_005266431.4:c.3074C>T	XP_005266488.1:p.Pro1025Leu
XM_006719837.3:c.3014C>T	XP_006719900.1:p.Pro1005Leu
XM_011535117.3:c.3014C>T	XP_011533419.1:p.Pro1005Leu
XM_017020627.1:c.3014C>T	XP_016876116.1:p.Pro1005Leu
NM_000053.4:c.3110C>T MANE Select	NP_000044.2:p.Pro1037Leu
NM_001005918.3:c.2489C>T	NP_001005918.1:p.Pro830Leu
NM_001330579.2:c.2858C>T	NP_001317508.1:p.Pro953Leu
NM_001243182.2:c.2777C>T	NP_001230111.1:p.Pro926Leu
NM_001330578.2:c.2876C>T	NP_001317507.1:p.Pro959Leu