Canonical Allele Identifier: CA6988722

Gene: ATP7B

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942430G>A , CM000675.2:g.51942430G>A	GRCh38
NC_000013.10:g.52516566G>A , CM000675.1:g.52516566G>A	GRCh37
NC_000013.9:g.51414567G>A	NCBI36
NG_008806.1:g.74065C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000053.4:c.3368C>T MANE Select	NP_000044.2:p.Pro1123Leu
ENST00000242839.10:c.3368C>T MANE Select	ENSP00000242839.5:p.Pro1123Leu
NM_000053.3:c.3368C>T	NP_000044.2:p.Pro1123Leu
NM_001005918.2:c.2747C>T	NP_001005918.1:p.Pro916Leu
NM_001005918.3:c.2747C>T	NP_001005918.1:p.Pro916Leu
NM_001243182.1:c.3035C>T	NP_001230111.1:p.Pro1012Leu
NM_001243182.2:c.3035C>T	NP_001230111.1:p.Pro1012Leu
NM_001330578.1:c.3134C>T	NP_001317507.1:p.Pro1045Leu
NM_001330578.2:c.3134C>T	NP_001317507.1:p.Pro1045Leu
NM_001330579.1:c.3116C>T	NP_001317508.1:p.Pro1039Leu
NM_001330579.2:c.3116C>T	NP_001317508.1:p.Pro1039Leu
ENST00000242839.8:c.3368C>T	ENSP00000242839.4:p.Pro1123Leu
ENST00000344297.8:c.2747C>T	ENSP00000342559.5:p.Pro916Leu
ENST00000344297.9:c.2747C>T	ENSP00000342559.5:p.Pro916Leu
ENST00000400366.5:c.3035C>T	ENSP00000383217.3:p.Pro1012Leu
ENST00000400366.6:c.3035C>T	ENSP00000383217.3:p.Pro1012Leu
ENST00000400370.8:c.2078C>T	ENSP00000383221.3:p.Pro693Leu
ENST00000418097.7:c.3173C>T	ENSP00000393343.2:p.Pro1058Leu
ENST00000448424.6:c.3134C>T	ENSP00000416738.2:p.Pro1045Leu
ENST00000448424.7:c.3116C>T	ENSP00000416738.3:p.Pro1039Leu
ENST00000634296.1:c.1146C>T
ENST00000634296.2:c.*1018C>T	ENSP00000489512.2:n.*1018C>T
ENST00000634308.1:c.*469C>T	ENSP00000489234.1:n.*469C>T
ENST00000634620.1:n.4112C>T
ENST00000634810.1:n.2713C>T
ENST00000634844.1:c.3224C>T	ENSP00000489398.1:p.Pro1075Leu
ENST00000673772.1:c.3134C>T	ENSP00000501168.1:p.Pro1045Leu
ENST00000673864.2:c.*2112C>T	ENSP00000501045.2:n.*2112C>T
ENST00000673867.1:n.3507C>T
ENST00000674126.1:n.3731C>T
ENST00000674147.1:c.2303C>T	ENSP00000500964.1:p.Pro768Leu
ENST00000674147.2:c.2747C>T	ENSP00000500964.2:p.Pro916Leu
XM_005266423.2:c.3272C>T	XP_005266480.1:p.Pro1091Leu
XM_005266424.3:c.3272C>T	XP_005266481.1:p.Pro1091Leu
XM_005266424.4:c.3272C>T	XP_005266481.1:p.Pro1091Leu
XM_005266427.2:c.3134C>T	XP_005266484.1:p.Pro1045Leu
XM_005266428.1:c.3116C>T	XP_005266485.1:p.Pro1039Leu
XM_005266430.3:c.3368C>T	XP_005266487.1:p.Pro1123Leu
XM_005266430.4:c.3368C>T	XP_005266487.1:p.Pro1123Leu
XM_005266431.2:c.3332C>T	XP_005266488.1:p.Pro1111Leu
XM_005266431.4:c.3332C>T	XP_005266488.1:p.Pro1111Leu
XM_005266432.2:c.2882C>T	XP_005266489.1:p.Pro961Leu
XM_006719837.2:c.3272C>T	XP_006719900.1:p.Pro1091Leu
XM_006719837.3:c.3272C>T	XP_006719900.1:p.Pro1091Leu
XM_006719838.1:c.1184C>T	XP_006719901.1:p.Pro395Leu
XM_006719839.1:c.1001C>T	XP_006719902.1:p.Pro334Leu
XM_011535117.1:c.3272C>T	XP_011533419.1:p.Pro1091Leu
XM_011535117.3:c.3272C>T	XP_011533419.1:p.Pro1091Leu
XM_011535118.1:c.3233C>T	XP_011533420.1:p.Pro1078Leu
XM_011535119.1:c.3185C>T	XP_011533421.1:p.Pro1062Leu
XM_011535120.1:c.2954C>T	XP_011533422.1:p.Pro985Leu
XM_011535121.1:c.2855C>T	XP_011533423.1:p.Pro952Leu
XM_011535122.1:c.2036C>T	XP_011533424.1:p.Pro679Leu
XM_017020627.1:c.3272C>T	XP_016876116.1:p.Pro1091Leu
XR_941601.1:n.3587C>T
XR_941602.1:n.3587C>T
XR_941603.1:n.3587C>T
XR_941604.1:n.3587C>T