Canonical Allele Identifier: CA388033295

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949681A>C , CM000675.2:g.51949681A>C	GRCh38
NC_000013.10:g.52523817A>C , CM000675.1:g.52523817A>C	GRCh37
NC_000013.9:g.51421818A>C	NCBI36
NG_008806.1:g.66814T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.2846T>G MANE Select	NP_000044.2:p.Val949Gly
ENST00000242839.10:c.2846T>G MANE Select	ENSP00000242839.5:p.Val949Gly
NM_000053.3:c.2846T>G	NP_000044.2:p.Val949Gly
NM_001005918.2:c.2244+326T>G	NP_001005918.1:n.2244+326T>G
NM_001005918.3:c.2244+326T>G	NP_001005918.1:n.2244+326T>G
NM_001243182.1:c.2513T>G	NP_001230111.1:p.Val838Gly
NM_001243182.2:c.2513T>G	NP_001230111.1:p.Val838Gly
NM_001330578.1:c.2612T>G	NP_001317507.1:p.Val871Gly
NM_001330578.2:c.2612T>G	NP_001317507.1:p.Val871Gly
NM_001330579.1:c.2594T>G	NP_001317508.1:p.Val865Gly
NM_001330579.2:c.2594T>G	NP_001317508.1:p.Val865Gly
ENST00000242839.8:c.2846T>G	ENSP00000242839.4:p.Val949Gly
ENST00000344297.8:c.2244+326T>G	ENSP00000342559.5:n.2244+326T>G
ENST00000344297.9:c.2244+326T>G	ENSP00000342559.5:n.2244+326T>G
ENST00000400366.5:c.2513T>G	ENSP00000383217.3:p.Val838Gly
ENST00000400366.6:c.2513T>G	ENSP00000383217.3:p.Val838Gly
ENST00000400370.8:c.1556T>G	ENSP00000383221.3:p.Val519Gly
ENST00000418097.7:c.2846T>G	ENSP00000393343.2:p.Val949Gly
ENST00000448424.6:c.2612T>G	ENSP00000416738.2:p.Val871Gly
ENST00000448424.7:c.2594T>G	ENSP00000416738.3:p.Val865Gly
ENST00000634296.1:c.807T>G
ENST00000634296.2:c.*679T>G	ENSP00000489512.2:n.*679T>G
ENST00000634308.1:c.2612T>G	ENSP00000489234.1:p.Val871Gly
ENST00000634620.1:n.3609+35T>G
ENST00000634810.1:n.2191T>G
ENST00000634844.1:c.2702T>G	ENSP00000489398.1:p.Val901Gly
ENST00000635406.1:n.212-3203T>G
ENST00000673772.1:c.2612T>G	ENSP00000501168.1:p.Val871Gly
ENST00000673864.2:c.*1590T>G	ENSP00000501045.2:n.*1590T>G
ENST00000674126.1:n.26T>G
ENST00000674147.1:c.1800+326T>G	ENSP00000500964.1:n.1800+326T>G
ENST00000674147.2:c.2244+326T>G	ENSP00000500964.2:n.2244+326T>G
XM_005266423.2:c.2750T>G	XP_005266480.1:p.Val917Gly
XM_005266424.3:c.2750T>G	XP_005266481.1:p.Val917Gly
XM_005266424.4:c.2750T>G	XP_005266481.1:p.Val917Gly
XM_005266427.2:c.2612T>G	XP_005266484.1:p.Val871Gly
XM_005266428.1:c.2594T>G	XP_005266485.1:p.Val865Gly
XM_005266430.3:c.2846T>G	XP_005266487.1:p.Val949Gly
XM_005266430.4:c.2846T>G	XP_005266487.1:p.Val949Gly
XM_005266431.2:c.2810T>G	XP_005266488.1:p.Val937Gly
XM_005266431.4:c.2810T>G	XP_005266488.1:p.Val937Gly
XM_005266432.2:c.2360T>G	XP_005266489.1:p.Val787Gly
XM_006719837.2:c.2750T>G	XP_006719900.1:p.Val917Gly
XM_006719837.3:c.2750T>G	XP_006719900.1:p.Val917Gly
XM_006719838.1:c.662T>G	XP_006719901.1:p.Val221Gly
XM_006719839.1:c.662T>G	XP_006719902.1:p.Val221Gly
XM_011535117.1:c.2750T>G	XP_011533419.1:p.Val917Gly
XM_011535117.3:c.2750T>G	XP_011533419.1:p.Val917Gly
XM_011535118.1:c.2730+326T>G	XP_011533420.1:n.2730+326T>G
XM_011535119.1:c.2846T>G	XP_011533421.1:p.Val949Gly
XM_011535120.1:c.2432T>G	XP_011533422.1:p.Val811Gly
XM_011535121.1:c.2730+326T>G	XP_011533423.1:n.2730+326T>G
XM_011535122.1:c.1514T>G	XP_011533424.1:p.Val505Gly
XM_017020627.1:c.2750T>G	XP_016876116.1:p.Val917Gly
XR_941601.1:n.3065T>G
XR_941602.1:n.3065T>G
XR_941603.1:n.3065T>G
XR_941604.1:n.3065T>G