Canonical Allele Identifier: CA388030126

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518334G>C (hg19) ; chr13:g.51944198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944198G>C , CM000675.2:g.51944198G>C	GRCh38
NC_000013.10:g.52518334G>C , CM000675.1:g.52518334G>C	GRCh37
NC_000013.9:g.51416335G>C	NCBI36
NG_008806.1:g.72297C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1644C>G	ENSP00000489512.2:n.*894-1644C>G
ENST00000673864.2:c.*1898C>G	ENSP00000501045.2:n.*1898C>G
ENST00000674147.2:c.2533C>G	ENSP00000500964.2:p.Pro845Ala
ENST00000242839.10:c.3154C>G MANE Select	ENSP00000242839.5:p.Pro1052Ala
ENST00000344297.9:c.2533C>G	ENSP00000342559.5:p.Pro845Ala
ENST00000400366.6:c.2821C>G	ENSP00000383217.3:p.Pro941Ala
ENST00000448424.7:c.2902C>G	ENSP00000416738.3:p.Pro968Ala
ENST00000673772.1:c.2920C>G	ENSP00000501168.1:p.Pro974Ala
ENST00000673867.1:n.3293C>G
ENST00000674126.1:n.3517C>G
ENST00000674147.1:c.2089C>G	ENSP00000500964.1:p.Pro697Ala
ENST00000242839.8:c.3154C>G	ENSP00000242839.4:p.Pro1052Ala
ENST00000344297.8:c.2533C>G	ENSP00000342559.5:p.Pro845Ala
ENST00000400366.5:c.2821C>G	ENSP00000383217.3:p.Pro941Ala
ENST00000400370.8:c.1864C>G	ENSP00000383221.3:p.Pro622Ala
ENST00000418097.7:c.2959C>G	ENSP00000393343.2:p.Pro987Ala
ENST00000448424.6:c.2920C>G	ENSP00000416738.2:p.Pro974Ala
ENST00000466629.1:n.374C>G
ENST00000634296.1:c.1022-1644C>G
ENST00000634308.1:c.*255C>G	ENSP00000489234.1:n.*255C>G
ENST00000634620.1:n.3898C>G
ENST00000634810.1:n.2499C>G
ENST00000634844.1:c.3010C>G	ENSP00000489398.1:p.Pro1004Ala
ENST00000635406.1:n.500C>G
NM_000053.3:c.3154C>G	NP_000044.2:p.Pro1052Ala
NM_001005918.2:c.2533C>G	NP_001005918.1:p.Pro845Ala
NM_001243182.1:c.2821C>G	NP_001230111.1:p.Pro941Ala
XM_005266423.2:c.3058C>G	XP_005266480.1:p.Pro1020Ala
XM_005266424.3:c.3058C>G	XP_005266481.1:p.Pro1020Ala
XM_005266427.2:c.2920C>G	XP_005266484.1:p.Pro974Ala
XM_005266428.1:c.2902C>G	XP_005266485.1:p.Pro968Ala
XM_005266430.3:c.3154C>G	XP_005266487.1:p.Pro1052Ala
XM_005266431.2:c.3118C>G	XP_005266488.1:p.Pro1040Ala
XM_005266432.2:c.2668C>G	XP_005266489.1:p.Pro890Ala
XM_006719837.2:c.3058C>G	XP_006719900.1:p.Pro1020Ala
XM_006719838.1:c.970C>G	XP_006719901.1:p.Pro324Ala
XM_006719839.1:c.877-1644C>G	XP_006719902.1:n.877-1644C>G
XM_011535117.1:c.3058C>G	XP_011533419.1:p.Pro1020Ala
XM_011535118.1:c.3019C>G	XP_011533420.1:p.Pro1007Ala
XM_011535119.1:c.3061-1644C>G	XP_011533421.1:n.3061-1644C>G
XM_011535120.1:c.2740C>G	XP_011533422.1:p.Pro914Ala
XM_011535121.1:c.2731-1644C>G	XP_011533423.1:n.2731-1644C>G
XM_011535122.1:c.1822C>G	XP_011533424.1:p.Pro608Ala
XR_941601.1:n.3373C>G
XR_941602.1:n.3373C>G
XR_941603.1:n.3373C>G
XR_941604.1:n.3373C>G
NM_001330578.1:c.2920C>G	NP_001317507.1:p.Pro974Ala
NM_001330579.1:c.2902C>G	NP_001317508.1:p.Pro968Ala
XM_005266424.4:c.3058C>G	XP_005266481.1:p.Pro1020Ala
XM_005266430.4:c.3154C>G	XP_005266487.1:p.Pro1052Ala
XM_005266431.4:c.3118C>G	XP_005266488.1:p.Pro1040Ala
XM_006719837.3:c.3058C>G	XP_006719900.1:p.Pro1020Ala
XM_011535117.3:c.3058C>G	XP_011533419.1:p.Pro1020Ala
XM_017020627.1:c.3058C>G	XP_016876116.1:p.Pro1020Ala
NM_000053.4:c.3154C>G MANE Select	NP_000044.2:p.Pro1052Ala
NM_001005918.3:c.2533C>G	NP_001005918.1:p.Pro845Ala
NM_001330579.2:c.2902C>G	NP_001317508.1:p.Pro968Ala
NM_001243182.2:c.2821C>G	NP_001230111.1:p.Pro941Ala
NM_001330578.2:c.2920C>G	NP_001317507.1:p.Pro974Ala