Canonical Allele Identifier: CA2210140898

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154910A= , CM000678.2:g.16154910A=	GRCh38
NC_000016.9:g.16248767A= , CM000678.1:g.16248767A=	GRCh37
NC_000016.8:g.16156268A=	NCBI36
NG_007558.2:g.73562T=
NG_007558.3:g.73708T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.4004T= MANE Select	NP_001162.5:p.Leu1335=
ENST00000205557.12:c.4004T= MANE Select	ENSP00000205557.7:p.Leu1335=
NM_001171.5:c.4004T=	NP_001162.4:p.Leu1335=
NM_001351800.1:c.3662T=	NP_001338729.1:p.Leu1221=
NR_147784.1:n.3666T=
ENST00000205557.11:c.4004T=	ENSP00000205557.7:p.Leu1335=
ENST00000456970.6:c.3629T=	ENSP00000405002.2:n.3629T=
ENST00000576204.5:n.867T=
ENST00000576204.6:n.867T=
ENST00000622290.4:c.*1213T=	ENSP00000483331.1:n.*1213T=
ENST00000622290.5:c.*176T=	ENSP00000483331.2:n.*176T=
ENST00000640696.1:c.818T=	ENSP00000492197.1:p.Leu273=
XM_011522479.1:c.3971T=	XP_011520781.1:p.Leu1324=
XM_011522479.2:c.3971T=	XP_011520781.1:p.Leu1324=
XM_011522480.1:c.3662T=	XP_011520782.1:p.Leu1221=
XM_011522481.1:c.3662T=	XP_011520783.1:p.Leu1221=
XM_011522481.3:c.3662T=	XP_011520783.1:p.Leu1221=
XM_017023212.1:c.3836T=	XP_016878701.1:p.Leu1279=
XM_024450261.1:c.4040T=	XP_024306029.1:p.Leu1347=
XR_933134.1:n.539-4871A=