Canonical Allele Identifier: CA2210139961

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165741A= , CM000678.2:g.16165741A=	GRCh38
NC_000016.9:g.16259598A= , CM000678.1:g.16259598A=	GRCh37
NC_000016.8:g.16167099A=	NCBI36
NG_007558.2:g.62731T=
NG_007558.3:g.62877T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3188T= MANE Select	NP_001162.5:p.Leu1063=
ENST00000205557.12:c.3188T= MANE Select	ENSP00000205557.7:p.Leu1063=
NM_001171.5:c.3188T=	NP_001162.4:p.Leu1063=
NM_001351800.1:c.2846T=	NP_001338729.1:p.Leu949=
NR_147784.1:n.3050T=
ENST00000205557.11:c.3188T=	ENSP00000205557.7:p.Leu1063=
ENST00000456970.6:c.3013T=	ENSP00000405002.2:n.3013T=
ENST00000622290.4:c.*397T=	ENSP00000483331.1:n.*397T=
ENST00000622290.5:c.3188T=	ENSP00000483331.2:p.Leu1063=
ENST00000640696.1:c.203T=	ENSP00000492197.1:p.Leu68=
XM_011522479.1:c.3155T=	XP_011520781.1:p.Leu1052=
XM_011522479.2:c.3155T=	XP_011520781.1:p.Leu1052=
XM_011522480.1:c.2846T=	XP_011520782.1:p.Leu949=
XM_011522481.1:c.2846T=	XP_011520783.1:p.Leu949=
XM_011522481.3:c.2846T=	XP_011520783.1:p.Leu949=
XM_017023212.1:c.3020T=	XP_016878701.1:p.Leu1007=
XM_017023214.1:c.3188T=	XP_016878703.1:p.Leu1063=
XM_024450261.1:c.3224T=	XP_024306029.1:p.Leu1075=
XR_932836.1:n.3423T=
XR_932836.2:n.3369T=
XR_932837.1:n.3424T=
XR_932837.3:n.3369T=
XR_932838.1:n.3424T=
XR_932838.3:n.3369T=