Canonical Allele Identifier: CA2210136920

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163156A= , CM000678.2:g.16163156A=	GRCh38
NC_000016.9:g.16257013A= , CM000678.1:g.16257013A=	GRCh37
NC_000016.8:g.16164514A=	NCBI36
NG_007558.2:g.65316T=
NG_007558.3:g.65462T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3343T=	ENSP00000483331.2:p.Leu1115=
ENST00000205557.12:c.3343T= MANE Select	ENSP00000205557.7:p.Leu1115=
ENST00000640696.1:c.321-1592T=	ENSP00000492197.1:n.321-1592T=
ENST00000205557.11:c.3343T=	ENSP00000205557.7:p.Leu1115=
ENST00000456970.6:c.3132-1592T=	ENSP00000405002.2:n.3132-1592T=
ENST00000622290.4:c.*552T=	ENSP00000483331.1:n.*552T=
NM_001171.5:c.3343T=	NP_001162.4:p.Leu1115=
XM_011522479.1:c.3310T=	XP_011520781.1:p.Leu1104=
XM_011522480.1:c.3001T=	XP_011520782.1:p.Leu1001=
XM_011522481.1:c.3001T=	XP_011520783.1:p.Leu1001=
XR_932836.1:n.3578T=
XR_932837.1:n.3543-1592T=
XR_932838.1:n.3543-1592T=
XR_933133.1:n.407+313A=
XR_933134.1:n.754+313A=
NM_001351800.1:c.3001T=	NP_001338729.1:p.Leu1001=
NR_147784.1:n.3169-1592T=
XM_011522479.2:c.3310T=	XP_011520781.1:p.Leu1104=
XM_011522481.3:c.3001T=	XP_011520783.1:p.Leu1001=
XM_017023212.1:c.3175T=	XP_016878701.1:p.Leu1059=
XM_017023214.1:c.3307-1592T=	XP_016878703.1:n.3307-1592T=
XM_024450261.1:c.3379T=	XP_024306029.1:p.Leu1127=
XR_932836.2:n.3524T=
XR_932837.3:n.3488-1592T=
XR_932838.3:n.3488-1592T=
NM_001171.6:c.3343T= MANE Select	NP_001162.5:p.Leu1115=