Canonical Allele Identifier: CA388024669

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939176-T-G
• MyVariant Identifiers: chr13:g.52513312T>G (hg19) ; chr13:g.51939176T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939176T>G , CM000675.2:g.51939176T>G	GRCh38
NC_000013.10:g.52513312T>G , CM000675.1:g.52513312T>G	GRCh37
NC_000013.9:g.51411313T>G	NCBI36
NG_008806.1:g.77319A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1224A>C	ENSP00000489512.2:n.*1224A>C
ENST00000673864.2:c.*2318A>C	ENSP00000501045.2:n.*2318A>C
ENST00000674147.2:c.2953A>C	ENSP00000500964.2:p.Ile985Leu
ENST00000242839.10:c.3574A>C MANE Select	ENSP00000242839.5:p.Ile1192Leu
ENST00000344297.9:c.2953A>C	ENSP00000342559.5:p.Ile985Leu
ENST00000400366.6:c.3241A>C	ENSP00000383217.3:p.Ile1081Leu
ENST00000448424.7:c.3322A>C	ENSP00000416738.3:p.Ile1108Leu
ENST00000673696.1:n.815A>C
ENST00000673772.1:c.3340A>C	ENSP00000501168.1:p.Ile1114Leu
ENST00000673867.1:n.3713A>C
ENST00000673923.1:n.440A>C
ENST00000674147.1:c.2509A>C	ENSP00000500964.1:p.Ile837Leu
ENST00000242839.8:c.3574A>C	ENSP00000242839.4:p.Ile1192Leu
ENST00000344297.8:c.2953A>C	ENSP00000342559.5:p.Ile985Leu
ENST00000400366.5:c.3241A>C	ENSP00000383217.3:p.Ile1081Leu
ENST00000400370.8:c.2284A>C	ENSP00000383221.3:p.Ile762Leu
ENST00000418097.7:c.3379A>C	ENSP00000393343.2:p.Ile1127Leu
ENST00000448424.6:c.3340A>C	ENSP00000416738.2:p.Ile1114Leu
ENST00000634296.1:c.1352A>C
ENST00000634308.1:c.*675A>C	ENSP00000489234.1:n.*675A>C
ENST00000634620.1:n.4318A>C
ENST00000634810.1:n.2919A>C
ENST00000634844.1:c.3430A>C	ENSP00000489398.1:p.Ile1144Leu
NM_000053.3:c.3574A>C	NP_000044.2:p.Ile1192Leu
NM_001005918.2:c.2953A>C	NP_001005918.1:p.Ile985Leu
NM_001243182.1:c.3241A>C	NP_001230111.1:p.Ile1081Leu
XM_005266423.2:c.3478A>C	XP_005266480.1:p.Ile1160Leu
XM_005266424.3:c.3478A>C	XP_005266481.1:p.Ile1160Leu
XM_005266427.2:c.3340A>C	XP_005266484.1:p.Ile1114Leu
XM_005266428.1:c.3322A>C	XP_005266485.1:p.Ile1108Leu
XM_005266430.3:c.3574A>C	XP_005266487.1:p.Ile1192Leu
XM_005266431.2:c.3538A>C	XP_005266488.1:p.Ile1180Leu
XM_005266432.2:c.3088A>C	XP_005266489.1:p.Ile1030Leu
XM_006719837.2:c.3478A>C	XP_006719900.1:p.Ile1160Leu
XM_006719838.1:c.1390A>C	XP_006719901.1:p.Ile464Leu
XM_006719839.1:c.1207A>C	XP_006719902.1:p.Ile403Leu
XM_011535117.1:c.3478A>C	XP_011533419.1:p.Ile1160Leu
XM_011535118.1:c.3439A>C	XP_011533420.1:p.Ile1147Leu
XM_011535119.1:c.3391A>C	XP_011533421.1:p.Ile1131Leu
XM_011535120.1:c.3160A>C	XP_011533422.1:p.Ile1054Leu
XM_011535121.1:c.3061A>C	XP_011533423.1:p.Ile1021Leu
XM_011535122.1:c.2242A>C	XP_011533424.1:p.Ile748Leu
XR_941601.1:n.3793A>C
XR_941602.1:n.3793A>C
XR_941603.1:n.3793A>C
XR_941604.1:n.3793A>C
NM_001330578.1:c.3340A>C	NP_001317507.1:p.Ile1114Leu
NM_001330579.1:c.3322A>C	NP_001317508.1:p.Ile1108Leu
XM_005266424.4:c.3478A>C	XP_005266481.1:p.Ile1160Leu
XM_005266430.4:c.3574A>C	XP_005266487.1:p.Ile1192Leu
XM_005266431.4:c.3538A>C	XP_005266488.1:p.Ile1180Leu
XM_006719837.3:c.3478A>C	XP_006719900.1:p.Ile1160Leu
XM_011535117.3:c.3478A>C	XP_011533419.1:p.Ile1160Leu
XM_017020627.1:c.3478A>C	XP_016876116.1:p.Ile1160Leu
NM_000053.4:c.3574A>C MANE Select	NP_000044.2:p.Ile1192Leu
NM_001005918.3:c.2953A>C	NP_001005918.1:p.Ile985Leu
NM_001330579.2:c.3322A>C	NP_001317508.1:p.Ile1108Leu
NM_001243182.2:c.3241A>C	NP_001230111.1:p.Ile1081Leu
NM_001330578.2:c.3340A>C	NP_001317507.1:p.Ile1114Leu