Canonical Allele Identifier: CA2210131941

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159541G= , CM000678.2:g.16159541G=	GRCh38
NC_000016.9:g.16253398G= , CM000678.1:g.16253398G=	GRCh37
NC_000016.8:g.16160899G=	NCBI36
NG_007558.2:g.68931C=
NG_007558.3:g.69077C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3676C=	ENSP00000483331.2:p.Leu1226=
ENST00000205557.12:c.3676C= MANE Select	ENSP00000205557.7:p.Leu1226=
ENST00000640696.1:c.490C=	ENSP00000492197.1:p.Leu164=
ENST00000205557.11:c.3676C=	ENSP00000205557.7:p.Leu1226=
ENST00000456970.6:c.3301C=	ENSP00000405002.2:n.3301C=
ENST00000622290.4:c.*885C=	ENSP00000483331.1:n.*885C=
NM_001171.5:c.3676C=	NP_001162.4:p.Leu1226=
XM_011522479.1:c.3643C=	XP_011520781.1:p.Leu1215=
XM_011522480.1:c.3334C=	XP_011520782.1:p.Leu1112=
XM_011522481.1:c.3334C=	XP_011520783.1:p.Leu1112=
XR_932836.1:n.3911C=
XR_932837.1:n.3712C=
XR_932838.1:n.3712C=
XR_933134.1:n.539-240G=
NM_001351800.1:c.3334C=	NP_001338729.1:p.Leu1112=
NR_147784.1:n.3338C=
XM_011522479.2:c.3643C=	XP_011520781.1:p.Leu1215=
XM_011522481.3:c.3334C=	XP_011520783.1:p.Leu1112=
XM_017023212.1:c.3508C=	XP_016878701.1:p.Leu1170=
XM_024450261.1:c.3712C=	XP_024306029.1:p.Leu1238=
XR_932836.2:n.3857C=
XR_932837.3:n.3657C=
XR_932838.3:n.3657C=
NM_001171.6:c.3676C= MANE Select	NP_001162.5:p.Leu1226=