Canonical Allele Identifier: CA2210140530

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154713G= , CM000678.2:g.16154713G=	GRCh38
NC_000016.9:g.16248570G= , CM000678.1:g.16248570G=	GRCh37
NC_000016.8:g.16156071G=	NCBI36
NG_007558.2:g.73759C=
NG_007558.3:g.73905C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*295C=	ENSP00000483331.2:n.*295C=
ENST00000205557.12:c.4123C= MANE Select	ENSP00000205557.7:p.Leu1375=
ENST00000640696.1:c.937C=	ENSP00000492197.1:p.Leu313=
ENST00000205557.11:c.4123C=	ENSP00000205557.7:p.Leu1375=
ENST00000456970.6:c.3748C=	ENSP00000405002.2:n.3748C=
ENST00000576204.5:n.986C=
ENST00000622290.4:c.*1332C=	ENSP00000483331.1:n.*1332C=
NM_001171.5:c.4123C=	NP_001162.4:p.Leu1375=
XM_011522479.1:c.4090C=	XP_011520781.1:p.Leu1364=
XM_011522480.1:c.3781C=	XP_011520782.1:p.Leu1261=
XM_011522481.1:c.3781C=	XP_011520783.1:p.Leu1261=
XR_933134.1:n.539-5068G=
NM_001351800.1:c.3781C=	NP_001338729.1:p.Leu1261=
NR_147784.1:n.3785C=
XM_011522479.2:c.4090C=	XP_011520781.1:p.Leu1364=
XM_011522481.3:c.3781C=	XP_011520783.1:p.Leu1261=
XM_017023212.1:c.3955C=	XP_016878701.1:p.Leu1319=
XM_024450261.1:c.4159C=	XP_024306029.1:p.Leu1387=
NM_001171.6:c.4123C= MANE Select	NP_001162.5:p.Leu1375=