Canonical Allele Identifier: CA388033189

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52523803A>G (hg19) ; chr13:g.51949667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949667A>G , CM000675.2:g.51949667A>G	GRCh38
NC_000013.10:g.52523803A>G , CM000675.1:g.52523803A>G	GRCh37
NC_000013.9:g.51421804A>G	NCBI36
NG_008806.1:g.66828T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*693T>C	ENSP00000489512.2:n.*693T>C
ENST00000673864.2:c.*1604T>C	ENSP00000501045.2:n.*1604T>C
ENST00000674147.2:c.2244+340T>C	ENSP00000500964.2:n.2244+340T>C
ENST00000242839.10:c.2860T>C MANE Select	ENSP00000242839.5:p.Phe954Leu
ENST00000344297.9:c.2244+340T>C	ENSP00000342559.5:n.2244+340T>C
ENST00000400366.6:c.2527T>C	ENSP00000383217.3:p.Phe843Leu
ENST00000448424.7:c.2608T>C	ENSP00000416738.3:p.Phe870Leu
ENST00000673772.1:c.2626T>C	ENSP00000501168.1:p.Phe876Leu
ENST00000674126.1:n.40T>C
ENST00000674147.1:c.1800+340T>C	ENSP00000500964.1:n.1800+340T>C
ENST00000242839.8:c.2860T>C	ENSP00000242839.4:p.Phe954Leu
ENST00000344297.8:c.2244+340T>C	ENSP00000342559.5:n.2244+340T>C
ENST00000400366.5:c.2527T>C	ENSP00000383217.3:p.Phe843Leu
ENST00000400370.8:c.1570T>C	ENSP00000383221.3:p.Phe524Leu
ENST00000418097.7:c.2860T>C	ENSP00000393343.2:p.Phe954Leu
ENST00000448424.6:c.2626T>C	ENSP00000416738.2:p.Phe876Leu
ENST00000634296.1:c.821T>C
ENST00000634308.1:c.2626T>C	ENSP00000489234.1:p.Phe876Leu
ENST00000634620.1:n.3609+49T>C
ENST00000634810.1:n.2205T>C
ENST00000634844.1:c.2716T>C	ENSP00000489398.1:p.Phe906Leu
ENST00000635406.1:n.212-3189T>C
NM_000053.3:c.2860T>C	NP_000044.2:p.Phe954Leu
NM_001005918.2:c.2244+340T>C	NP_001005918.1:n.2244+340T>C
NM_001243182.1:c.2527T>C	NP_001230111.1:p.Phe843Leu
XM_005266423.2:c.2764T>C	XP_005266480.1:p.Phe922Leu
XM_005266424.3:c.2764T>C	XP_005266481.1:p.Phe922Leu
XM_005266427.2:c.2626T>C	XP_005266484.1:p.Phe876Leu
XM_005266428.1:c.2608T>C	XP_005266485.1:p.Phe870Leu
XM_005266430.3:c.2860T>C	XP_005266487.1:p.Phe954Leu
XM_005266431.2:c.2824T>C	XP_005266488.1:p.Phe942Leu
XM_005266432.2:c.2374T>C	XP_005266489.1:p.Phe792Leu
XM_006719837.2:c.2764T>C	XP_006719900.1:p.Phe922Leu
XM_006719838.1:c.676T>C	XP_006719901.1:p.Phe226Leu
XM_006719839.1:c.676T>C	XP_006719902.1:p.Phe226Leu
XM_011535117.1:c.2764T>C	XP_011533419.1:p.Phe922Leu
XM_011535118.1:c.2730+340T>C	XP_011533420.1:n.2730+340T>C
XM_011535119.1:c.2860T>C	XP_011533421.1:p.Phe954Leu
XM_011535120.1:c.2446T>C	XP_011533422.1:p.Phe816Leu
XM_011535121.1:c.2730+340T>C	XP_011533423.1:n.2730+340T>C
XM_011535122.1:c.1528T>C	XP_011533424.1:p.Phe510Leu
XR_941601.1:n.3079T>C
XR_941602.1:n.3079T>C
XR_941603.1:n.3079T>C
XR_941604.1:n.3079T>C
NM_001330578.1:c.2626T>C	NP_001317507.1:p.Phe876Leu
NM_001330579.1:c.2608T>C	NP_001317508.1:p.Phe870Leu
XM_005266424.4:c.2764T>C	XP_005266481.1:p.Phe922Leu
XM_005266430.4:c.2860T>C	XP_005266487.1:p.Phe954Leu
XM_005266431.4:c.2824T>C	XP_005266488.1:p.Phe942Leu
XM_006719837.3:c.2764T>C	XP_006719900.1:p.Phe922Leu
XM_011535117.3:c.2764T>C	XP_011533419.1:p.Phe922Leu
XM_017020627.1:c.2764T>C	XP_016876116.1:p.Phe922Leu
NM_000053.4:c.2860T>C MANE Select	NP_000044.2:p.Phe954Leu
NM_001005918.3:c.2244+340T>C	NP_001005918.1:n.2244+340T>C
NM_001330579.2:c.2608T>C	NP_001317508.1:p.Phe870Leu
NM_001243182.2:c.2527T>C	NP_001230111.1:p.Phe843Leu
NM_001330578.2:c.2626T>C	NP_001317507.1:p.Phe876Leu