Canonical Allele Identifier: CA2210152654

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198179G= , CM000678.2:g.16198179G=	GRCh38
NC_000016.9:g.16292036G= , CM000678.1:g.16292036G=	GRCh37
NC_000016.8:g.16199537G=	NCBI36
NG_007558.2:g.30293C=
NG_007558.3:g.30439C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1180C=	ENSP00000507301.1:p.Leu394=
ENST00000622290.5:c.1180C=	ENSP00000483331.2:p.Leu394=
ENST00000205557.12:c.1180C= MANE Select	ENSP00000205557.7:p.Leu394=
ENST00000205557.11:c.1180C=	ENSP00000205557.7:p.Leu394=
ENST00000456970.6:c.1180C=	ENSP00000405002.2:p.Leu394=
ENST00000574094.5:n.1276C=
ENST00000622290.4:c.1180C=	ENSP00000483331.1:p.Leu394=
NM_001171.5:c.1180C=	NP_001162.4:p.Leu394=
XM_011522479.1:c.1180C=	XP_011520781.1:p.Leu394=
XM_011522480.1:c.838C=	XP_011520782.1:p.Leu280=
XM_011522481.1:c.838C=	XP_011520783.1:p.Leu280=
XM_011522482.1:c.1180C=	XP_011520784.1:p.Leu394=
XR_932836.1:n.1415C=
XR_932837.1:n.1416C=
XR_932838.1:n.1416C=
NM_001351800.1:c.838C=	NP_001338729.1:p.Leu280=
NR_147784.1:n.1217C=
XM_011522479.2:c.1180C=	XP_011520781.1:p.Leu394=
XM_011522481.3:c.838C=	XP_011520783.1:p.Leu280=
XM_011522482.3:c.1180C=	XP_011520784.1:p.Leu394=
XM_017023212.1:c.1180C=	XP_016878701.1:p.Leu394=
XM_017023214.1:c.1180C=	XP_016878703.1:p.Leu394=
XM_024450261.1:c.1216C=	XP_024306029.1:p.Leu406=
XR_932836.2:n.1361C=
XR_932837.3:n.1361C=
XR_932838.3:n.1361C=
NM_001171.6:c.1180C= MANE Select	NP_001162.5:p.Leu394=