Canonical Allele Identifier: CA388024850

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513327C>G (hg19) ; chr13:g.51939191C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939191C>G , CM000675.2:g.51939191C>G	GRCh38
NC_000013.10:g.52513327C>G , CM000675.1:g.52513327C>G	GRCh37
NC_000013.9:g.51411328C>G	NCBI36
NG_008806.1:g.77304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1209G>C	ENSP00000489512.2:n.*1209G>C
ENST00000673864.2:c.*2303G>C	ENSP00000501045.2:n.*2303G>C
ENST00000674147.2:c.2938G>C	ENSP00000500964.2:p.Val980Leu
ENST00000242839.10:c.3559G>C MANE Select	ENSP00000242839.5:p.Val1187Leu
ENST00000344297.9:c.2938G>C	ENSP00000342559.5:p.Val980Leu
ENST00000400366.6:c.3226G>C	ENSP00000383217.3:p.Val1076Leu
ENST00000448424.7:c.3307G>C	ENSP00000416738.3:p.Val1103Leu
ENST00000673696.1:n.800G>C
ENST00000673772.1:c.3325G>C	ENSP00000501168.1:p.Val1109Leu
ENST00000673867.1:n.3698G>C
ENST00000673923.1:n.425G>C
ENST00000674147.1:c.2494G>C	ENSP00000500964.1:p.Val832Leu
ENST00000242839.8:c.3559G>C	ENSP00000242839.4:p.Val1187Leu
ENST00000344297.8:c.2938G>C	ENSP00000342559.5:p.Val980Leu
ENST00000400366.5:c.3226G>C	ENSP00000383217.3:p.Val1076Leu
ENST00000400370.8:c.2269G>C	ENSP00000383221.3:p.Val757Leu
ENST00000418097.7:c.3364G>C	ENSP00000393343.2:p.Val1122Leu
ENST00000448424.6:c.3325G>C	ENSP00000416738.2:p.Val1109Leu
ENST00000634296.1:c.1337G>C
ENST00000634308.1:c.*660G>C	ENSP00000489234.1:n.*660G>C
ENST00000634620.1:n.4303G>C
ENST00000634810.1:n.2904G>C
ENST00000634844.1:c.3415G>C	ENSP00000489398.1:p.Val1139Leu
NM_000053.3:c.3559G>C	NP_000044.2:p.Val1187Leu
NM_001005918.2:c.2938G>C	NP_001005918.1:p.Val980Leu
NM_001243182.1:c.3226G>C	NP_001230111.1:p.Val1076Leu
XM_005266423.2:c.3463G>C	XP_005266480.1:p.Val1155Leu
XM_005266424.3:c.3463G>C	XP_005266481.1:p.Val1155Leu
XM_005266427.2:c.3325G>C	XP_005266484.1:p.Val1109Leu
XM_005266428.1:c.3307G>C	XP_005266485.1:p.Val1103Leu
XM_005266430.3:c.3559G>C	XP_005266487.1:p.Val1187Leu
XM_005266431.2:c.3523G>C	XP_005266488.1:p.Val1175Leu
XM_005266432.2:c.3073G>C	XP_005266489.1:p.Val1025Leu
XM_006719837.2:c.3463G>C	XP_006719900.1:p.Val1155Leu
XM_006719838.1:c.1375G>C	XP_006719901.1:p.Val459Leu
XM_006719839.1:c.1192G>C	XP_006719902.1:p.Val398Leu
XM_011535117.1:c.3463G>C	XP_011533419.1:p.Val1155Leu
XM_011535118.1:c.3424G>C	XP_011533420.1:p.Val1142Leu
XM_011535119.1:c.3376G>C	XP_011533421.1:p.Val1126Leu
XM_011535120.1:c.3145G>C	XP_011533422.1:p.Val1049Leu
XM_011535121.1:c.3046G>C	XP_011533423.1:p.Val1016Leu
XM_011535122.1:c.2227G>C	XP_011533424.1:p.Val743Leu
XR_941601.1:n.3778G>C
XR_941602.1:n.3778G>C
XR_941603.1:n.3778G>C
XR_941604.1:n.3778G>C
NM_001330578.1:c.3325G>C	NP_001317507.1:p.Val1109Leu
NM_001330579.1:c.3307G>C	NP_001317508.1:p.Val1103Leu
XM_005266424.4:c.3463G>C	XP_005266481.1:p.Val1155Leu
XM_005266430.4:c.3559G>C	XP_005266487.1:p.Val1187Leu
XM_005266431.4:c.3523G>C	XP_005266488.1:p.Val1175Leu
XM_006719837.3:c.3463G>C	XP_006719900.1:p.Val1155Leu
XM_011535117.3:c.3463G>C	XP_011533419.1:p.Val1155Leu
XM_017020627.1:c.3463G>C	XP_016876116.1:p.Val1155Leu
NM_000053.4:c.3559G>C MANE Select	NP_000044.2:p.Val1187Leu
NM_001005918.3:c.2938G>C	NP_001005918.1:p.Val980Leu
NM_001330579.2:c.3307G>C	NP_001317508.1:p.Val1103Leu
NM_001243182.2:c.3226G>C	NP_001230111.1:p.Val1076Leu
NM_001330578.2:c.3325G>C	NP_001317507.1:p.Val1109Leu