Canonical Allele Identifier: CA2210158110

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16208780G= , CM000678.2:g.16208780G=	GRCh38
NC_000016.9:g.16302637G= , CM000678.1:g.16302637G=	GRCh37
NC_000016.8:g.16210138G=	NCBI36
NG_007558.2:g.19692C=
NG_007558.3:g.19838C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.742C= MANE Select	NP_001162.5:p.Leu248=
ENST00000205557.12:c.742C= MANE Select	ENSP00000205557.7:p.Leu248=
NM_001171.5:c.742C=	NP_001162.4:p.Leu248=
NM_001351800.1:c.400C=	NP_001338729.1:p.Leu134=
NR_147784.1:n.779C=
ENST00000205557.11:c.742C=	ENSP00000205557.7:p.Leu248=
ENST00000456970.6:c.742C=	ENSP00000405002.2:p.Leu248=
ENST00000574094.5:n.838C=
ENST00000574094.6:c.742C=	ENSP00000507301.1:p.Leu248=
ENST00000577103.1:c.*609C=	ENSP00000459243.1:n.*609C=
ENST00000622290.4:c.742C=	ENSP00000483331.1:p.Leu248=
ENST00000622290.5:c.742C=	ENSP00000483331.2:p.Leu248=
XM_011522479.1:c.742C=	XP_011520781.1:p.Leu248=
XM_011522479.2:c.742C=	XP_011520781.1:p.Leu248=
XM_011522480.1:c.400C=	XP_011520782.1:p.Leu134=
XM_011522481.1:c.400C=	XP_011520783.1:p.Leu134=
XM_011522481.3:c.400C=	XP_011520783.1:p.Leu134=
XM_011522482.1:c.742C=	XP_011520784.1:p.Leu248=
XM_011522482.3:c.742C=	XP_011520784.1:p.Leu248=
XM_017023212.1:c.742C=	XP_016878701.1:p.Leu248=
XM_017023214.1:c.742C=	XP_016878703.1:p.Leu248=
XM_024450261.1:c.778C=	XP_024306029.1:p.Leu260=
XR_001752340.1:n.105-74G=
XR_001752341.1:n.105-74G=
XR_001752342.1:n.105-74G=
XR_932836.1:n.977C=
XR_932836.2:n.923C=
XR_932837.1:n.978C=
XR_932837.3:n.923C=
XR_932838.1:n.978C=
XR_932838.3:n.923C=
XR_933131.1:n.97-74G=
XR_933131.2:n.105-74G=
XR_933132.1:n.97-74G=
XR_933132.2:n.105-74G=