Canonical Allele Identifier: CA2210140875

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154901A= , CM000678.2:g.16154901A=	GRCh38
NC_000016.9:g.16248758A= , CM000678.1:g.16248758A=	GRCh37
NC_000016.8:g.16156259A=	NCBI36
NG_007558.2:g.73571T=
NG_007558.3:g.73717T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.876T=
ENST00000622290.5:c.*185T=	ENSP00000483331.2:n.*185T=
ENST00000205557.12:c.4013T= MANE Select	ENSP00000205557.7:p.Leu1338=
ENST00000640696.1:c.827T=	ENSP00000492197.1:p.Leu276=
ENST00000205557.11:c.4013T=	ENSP00000205557.7:p.Leu1338=
ENST00000456970.6:c.3638T=	ENSP00000405002.2:n.3638T=
ENST00000576204.5:n.876T=
ENST00000622290.4:c.*1222T=	ENSP00000483331.1:n.*1222T=
NM_001171.5:c.4013T=	NP_001162.4:p.Leu1338=
XM_011522479.1:c.3980T=	XP_011520781.1:p.Leu1327=
XM_011522480.1:c.3671T=	XP_011520782.1:p.Leu1224=
XM_011522481.1:c.3671T=	XP_011520783.1:p.Leu1224=
XR_933134.1:n.539-4880A=
NM_001351800.1:c.3671T=	NP_001338729.1:p.Leu1224=
NR_147784.1:n.3675T=
XM_011522479.2:c.3980T=	XP_011520781.1:p.Leu1327=
XM_011522481.3:c.3671T=	XP_011520783.1:p.Leu1224=
XM_017023212.1:c.3845T=	XP_016878701.1:p.Leu1282=
XM_024450261.1:c.4049T=	XP_024306029.1:p.Leu1350=
NM_001171.6:c.4013T= MANE Select	NP_001162.5:p.Leu1338=