Canonical Allele Identifier: CA388026629

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515323G>C (hg19) ; chr13:g.51941187G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941187G>C , CM000675.2:g.51941187G>C	GRCh38
NC_000013.10:g.52515323G>C , CM000675.1:g.52515323G>C	GRCh37
NC_000013.9:g.51413324G>C	NCBI36
NG_008806.1:g.75308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1100C>G	ENSP00000489512.2:n.*1100C>G
ENST00000673864.2:c.*2194C>G	ENSP00000501045.2:n.*2194C>G
ENST00000674147.2:c.2829C>G	ENSP00000500964.2:p.Asn943Lys
ENST00000242839.10:c.3450C>G MANE Select	ENSP00000242839.5:p.Asn1150Lys
ENST00000344297.9:c.2829C>G	ENSP00000342559.5:p.Asn943Lys
ENST00000400366.6:c.3117C>G	ENSP00000383217.3:p.Asn1039Lys
ENST00000448424.7:c.3198C>G	ENSP00000416738.3:p.Asn1066Lys
ENST00000673772.1:c.3216C>G	ENSP00000501168.1:p.Asn1072Lys
ENST00000673867.1:n.3589C>G
ENST00000674126.1:n.3813C>G
ENST00000674147.1:c.2385C>G	ENSP00000500964.1:p.Asn795Lys
ENST00000242839.8:c.3450C>G	ENSP00000242839.4:p.Asn1150Lys
ENST00000344297.8:c.2829C>G	ENSP00000342559.5:p.Asn943Lys
ENST00000400366.5:c.3117C>G	ENSP00000383217.3:p.Asn1039Lys
ENST00000400370.8:c.2160C>G	ENSP00000383221.3:p.Asn720Lys
ENST00000418097.7:c.3255C>G	ENSP00000393343.2:p.Asn1085Lys
ENST00000448424.6:c.3216C>G	ENSP00000416738.2:p.Asn1072Lys
ENST00000634296.1:c.1228C>G
ENST00000634308.1:c.*551C>G	ENSP00000489234.1:n.*551C>G
ENST00000634620.1:n.4194C>G
ENST00000634810.1:n.2795C>G
ENST00000634844.1:c.3306C>G	ENSP00000489398.1:p.Asn1102Lys
NM_000053.3:c.3450C>G	NP_000044.2:p.Asn1150Lys
NM_001005918.2:c.2829C>G	NP_001005918.1:p.Asn943Lys
NM_001243182.1:c.3117C>G	NP_001230111.1:p.Asn1039Lys
XM_005266423.2:c.3354C>G	XP_005266480.1:p.Asn1118Lys
XM_005266424.3:c.3354C>G	XP_005266481.1:p.Asn1118Lys
XM_005266427.2:c.3216C>G	XP_005266484.1:p.Asn1072Lys
XM_005266428.1:c.3198C>G	XP_005266485.1:p.Asn1066Lys
XM_005266430.3:c.3450C>G	XP_005266487.1:p.Asn1150Lys
XM_005266431.2:c.3414C>G	XP_005266488.1:p.Asn1138Lys
XM_005266432.2:c.2964C>G	XP_005266489.1:p.Asn988Lys
XM_006719837.2:c.3354C>G	XP_006719900.1:p.Asn1118Lys
XM_006719838.1:c.1266C>G	XP_006719901.1:p.Asn422Lys
XM_006719839.1:c.1083C>G	XP_006719902.1:p.Asn361Lys
XM_011535117.1:c.3354C>G	XP_011533419.1:p.Asn1118Lys
XM_011535118.1:c.3315C>G	XP_011533420.1:p.Asn1105Lys
XM_011535119.1:c.3267C>G	XP_011533421.1:p.Asn1089Lys
XM_011535120.1:c.3036C>G	XP_011533422.1:p.Asn1012Lys
XM_011535121.1:c.2937C>G	XP_011533423.1:p.Asn979Lys
XM_011535122.1:c.2118C>G	XP_011533424.1:p.Asn706Lys
XR_941601.1:n.3669C>G
XR_941602.1:n.3669C>G
XR_941603.1:n.3669C>G
XR_941604.1:n.3669C>G
NM_001330578.1:c.3216C>G	NP_001317507.1:p.Asn1072Lys
NM_001330579.1:c.3198C>G	NP_001317508.1:p.Asn1066Lys
XM_005266424.4:c.3354C>G	XP_005266481.1:p.Asn1118Lys
XM_005266430.4:c.3450C>G	XP_005266487.1:p.Asn1150Lys
XM_005266431.4:c.3414C>G	XP_005266488.1:p.Asn1138Lys
XM_006719837.3:c.3354C>G	XP_006719900.1:p.Asn1118Lys
XM_011535117.3:c.3354C>G	XP_011533419.1:p.Asn1118Lys
XM_017020627.1:c.3354C>G	XP_016876116.1:p.Asn1118Lys
NM_000053.4:c.3450C>G MANE Select	NP_000044.2:p.Asn1150Lys
NM_001005918.3:c.2829C>G	NP_001005918.1:p.Asn943Lys
NM_001330579.2:c.3198C>G	NP_001317508.1:p.Asn1066Lys
NM_001243182.2:c.3117C>G	NP_001230111.1:p.Asn1039Lys
NM_001330578.2:c.3216C>G	NP_001317507.1:p.Asn1072Lys