Canonical Allele Identifier: CA388031900

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520451T>A (hg19) ; chr13:g.51946315T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946315T>A , CM000675.2:g.51946315T>A	GRCh38
NC_000013.10:g.52520451T>A , CM000675.1:g.52520451T>A	GRCh37
NC_000013.9:g.51418452T>A	NCBI36
NG_008806.1:g.70180A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*862A>T	ENSP00000489512.2:n.*862A>T
ENST00000673864.2:c.*1773A>T	ENSP00000501045.2:n.*1773A>T
ENST00000674147.2:c.2408A>T	ENSP00000500964.2:p.Lys803Met
ENST00000242839.10:c.3029A>T MANE Select	ENSP00000242839.5:p.Lys1010Met
ENST00000344297.9:c.2408A>T	ENSP00000342559.5:p.Lys803Met
ENST00000400366.6:c.2696A>T	ENSP00000383217.3:p.Lys899Met
ENST00000448424.7:c.2777A>T	ENSP00000416738.3:p.Lys926Met
ENST00000673772.1:c.2795A>T	ENSP00000501168.1:p.Lys932Met
ENST00000673867.1:n.1176A>T
ENST00000674126.1:n.3392A>T
ENST00000674147.1:c.1964A>T	ENSP00000500964.1:p.Lys655Met
ENST00000242839.8:c.3029A>T	ENSP00000242839.4:p.Lys1010Met
ENST00000344297.8:c.2408A>T	ENSP00000342559.5:p.Lys803Met
ENST00000400366.5:c.2696A>T	ENSP00000383217.3:p.Lys899Met
ENST00000400370.8:c.1739A>T	ENSP00000383221.3:p.Lys580Met
ENST00000418097.7:c.2866-2024A>T	ENSP00000393343.2:n.2866-2024A>T
ENST00000448424.6:c.2795A>T	ENSP00000416738.2:p.Lys932Met
ENST00000466629.1:n.249A>T
ENST00000634296.1:c.990A>T
ENST00000634308.1:c.*130A>T	ENSP00000489234.1:n.*130A>T
ENST00000634620.1:n.3773A>T
ENST00000634810.1:n.2374A>T
ENST00000634844.1:c.2885A>T	ENSP00000489398.1:p.Lys962Met
ENST00000635406.1:n.375A>T
NM_000053.3:c.3029A>T	NP_000044.2:p.Lys1010Met
NM_001005918.2:c.2408A>T	NP_001005918.1:p.Lys803Met
NM_001243182.1:c.2696A>T	NP_001230111.1:p.Lys899Met
XM_005266423.2:c.2933A>T	XP_005266480.1:p.Lys978Met
XM_005266424.3:c.2933A>T	XP_005266481.1:p.Lys978Met
XM_005266427.2:c.2795A>T	XP_005266484.1:p.Lys932Met
XM_005266428.1:c.2777A>T	XP_005266485.1:p.Lys926Met
XM_005266430.3:c.3029A>T	XP_005266487.1:p.Lys1010Met
XM_005266431.2:c.2993A>T	XP_005266488.1:p.Lys998Met
XM_005266432.2:c.2543A>T	XP_005266489.1:p.Lys848Met
XM_006719837.2:c.2933A>T	XP_006719900.1:p.Lys978Met
XM_006719838.1:c.845A>T	XP_006719901.1:p.Lys282Met
XM_006719839.1:c.845A>T	XP_006719902.1:p.Lys282Met
XM_011535117.1:c.2933A>T	XP_011533419.1:p.Lys978Met
XM_011535118.1:c.2894A>T	XP_011533420.1:p.Lys965Met
XM_011535119.1:c.3029A>T	XP_011533421.1:p.Lys1010Met
XM_011535120.1:c.2615A>T	XP_011533422.1:p.Lys872Met
XM_011535121.1:c.2730+3692A>T	XP_011533423.1:n.2730+3692A>T
XM_011535122.1:c.1697A>T	XP_011533424.1:p.Lys566Met
XR_941601.1:n.3248A>T
XR_941602.1:n.3248A>T
XR_941603.1:n.3248A>T
XR_941604.1:n.3248A>T
NM_001330578.1:c.2795A>T	NP_001317507.1:p.Lys932Met
NM_001330579.1:c.2777A>T	NP_001317508.1:p.Lys926Met
XM_005266424.4:c.2933A>T	XP_005266481.1:p.Lys978Met
XM_005266430.4:c.3029A>T	XP_005266487.1:p.Lys1010Met
XM_005266431.4:c.2993A>T	XP_005266488.1:p.Lys998Met
XM_006719837.3:c.2933A>T	XP_006719900.1:p.Lys978Met
XM_011535117.3:c.2933A>T	XP_011533419.1:p.Lys978Met
XM_017020627.1:c.2933A>T	XP_016876116.1:p.Lys978Met
NM_000053.4:c.3029A>T MANE Select	NP_000044.2:p.Lys1010Met
NM_001005918.3:c.2408A>T	NP_001005918.1:p.Lys803Met
NM_001330579.2:c.2777A>T	NP_001317508.1:p.Lys926Met
NM_001243182.2:c.2696A>T	NP_001230111.1:p.Lys899Met
NM_001330578.2:c.2795A>T	NP_001317507.1:p.Lys932Met