Canonical Allele Identifier: CA388030321

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518368C>G (hg19) ; chr13:g.51944232C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944232C>G , CM000675.2:g.51944232C>G	GRCh38
NC_000013.10:g.52518368C>G , CM000675.1:g.52518368C>G	GRCh37
NC_000013.9:g.51416369C>G	NCBI36
NG_008806.1:g.72263G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1678G>C	ENSP00000489512.2:n.*894-1678G>C
ENST00000673864.2:c.*1864G>C	ENSP00000501045.2:n.*1864G>C
ENST00000674147.2:c.2499G>C	ENSP00000500964.2:p.Met833Ile
ENST00000242839.10:c.3120G>C MANE Select	ENSP00000242839.5:p.Met1040Ile
ENST00000344297.9:c.2499G>C	ENSP00000342559.5:p.Met833Ile
ENST00000400366.6:c.2787G>C	ENSP00000383217.3:p.Met929Ile
ENST00000448424.7:c.2868G>C	ENSP00000416738.3:p.Met956Ile
ENST00000673772.1:c.2886G>C	ENSP00000501168.1:p.Met962Ile
ENST00000673867.1:n.3259G>C
ENST00000674126.1:n.3483G>C
ENST00000674147.1:c.2055G>C	ENSP00000500964.1:p.Met685Ile
ENST00000242839.8:c.3120G>C	ENSP00000242839.4:p.Met1040Ile
ENST00000344297.8:c.2499G>C	ENSP00000342559.5:p.Met833Ile
ENST00000400366.5:c.2787G>C	ENSP00000383217.3:p.Met929Ile
ENST00000400370.8:c.1830G>C	ENSP00000383221.3:p.Met610Ile
ENST00000418097.7:c.2925G>C	ENSP00000393343.2:p.Met975Ile
ENST00000448424.6:c.2886G>C	ENSP00000416738.2:p.Met962Ile
ENST00000466629.1:n.340G>C
ENST00000634296.1:c.1022-1678G>C
ENST00000634308.1:c.*221G>C	ENSP00000489234.1:n.*221G>C
ENST00000634620.1:n.3864G>C
ENST00000634810.1:n.2465G>C
ENST00000634844.1:c.2976G>C	ENSP00000489398.1:p.Met992Ile
ENST00000635406.1:n.466G>C
NM_000053.3:c.3120G>C	NP_000044.2:p.Met1040Ile
NM_001005918.2:c.2499G>C	NP_001005918.1:p.Met833Ile
NM_001243182.1:c.2787G>C	NP_001230111.1:p.Met929Ile
XM_005266423.2:c.3024G>C	XP_005266480.1:p.Met1008Ile
XM_005266424.3:c.3024G>C	XP_005266481.1:p.Met1008Ile
XM_005266427.2:c.2886G>C	XP_005266484.1:p.Met962Ile
XM_005266428.1:c.2868G>C	XP_005266485.1:p.Met956Ile
XM_005266430.3:c.3120G>C	XP_005266487.1:p.Met1040Ile
XM_005266431.2:c.3084G>C	XP_005266488.1:p.Met1028Ile
XM_005266432.2:c.2634G>C	XP_005266489.1:p.Met878Ile
XM_006719837.2:c.3024G>C	XP_006719900.1:p.Met1008Ile
XM_006719838.1:c.936G>C	XP_006719901.1:p.Met312Ile
XM_006719839.1:c.877-1678G>C	XP_006719902.1:n.877-1678G>C
XM_011535117.1:c.3024G>C	XP_011533419.1:p.Met1008Ile
XM_011535118.1:c.2985G>C	XP_011533420.1:p.Met995Ile
XM_011535119.1:c.3061-1678G>C	XP_011533421.1:n.3061-1678G>C
XM_011535120.1:c.2706G>C	XP_011533422.1:p.Met902Ile
XM_011535121.1:c.2731-1678G>C	XP_011533423.1:n.2731-1678G>C
XM_011535122.1:c.1788G>C	XP_011533424.1:p.Met596Ile
XR_941601.1:n.3339G>C
XR_941602.1:n.3339G>C
XR_941603.1:n.3339G>C
XR_941604.1:n.3339G>C
NM_001330578.1:c.2886G>C	NP_001317507.1:p.Met962Ile
NM_001330579.1:c.2868G>C	NP_001317508.1:p.Met956Ile
XM_005266424.4:c.3024G>C	XP_005266481.1:p.Met1008Ile
XM_005266430.4:c.3120G>C	XP_005266487.1:p.Met1040Ile
XM_005266431.4:c.3084G>C	XP_005266488.1:p.Met1028Ile
XM_006719837.3:c.3024G>C	XP_006719900.1:p.Met1008Ile
XM_011535117.3:c.3024G>C	XP_011533419.1:p.Met1008Ile
XM_017020627.1:c.3024G>C	XP_016876116.1:p.Met1008Ile
NM_000053.4:c.3120G>C MANE Select	NP_000044.2:p.Met1040Ile
NM_001005918.3:c.2499G>C	NP_001005918.1:p.Met833Ile
NM_001330579.2:c.2868G>C	NP_001317508.1:p.Met956Ile
NM_001243182.2:c.2787G>C	NP_001230111.1:p.Met929Ile
NM_001330578.2:c.2886G>C	NP_001317507.1:p.Met962Ile