Canonical Allele Identifier: CA2210135216

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150730G= , CM000678.2:g.16150730G=	GRCh38
NC_000016.9:g.16244587G= , CM000678.1:g.16244587G=	GRCh37
NC_000016.8:g.16152088G=	NCBI36
NG_007558.2:g.77742C=
NG_007558.3:g.77888C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*423C=	ENSP00000483331.2:n.*423C=
ENST00000205557.12:c.4251C= MANE Select	ENSP00000205557.7:p.Leu1417=
ENST00000640696.1:c.1065C=	ENSP00000492197.1:p.Leu355=
ENST00000205557.11:c.4251C=	ENSP00000205557.7:p.Leu1417=
ENST00000456970.6:c.3876C=	ENSP00000405002.2:n.3876C=
ENST00000576204.5:n.1114C=
ENST00000622290.4:c.*1460C=	ENSP00000483331.1:n.*1460C=
NM_001171.5:c.4251C=	NP_001162.4:p.Leu1417=
XM_011522479.1:c.4218C=	XP_011520781.1:p.Leu1406=
XM_011522480.1:c.3909C=	XP_011520782.1:p.Leu1303=
XM_011522481.1:c.3909C=	XP_011520783.1:p.Leu1303=
XR_933134.1:n.538+6440G=
NM_001351800.1:c.3909C=	NP_001338729.1:p.Leu1303=
NR_147784.1:n.3913C=
XM_011522479.2:c.4218C=	XP_011520781.1:p.Leu1406=
XM_011522481.3:c.3909C=	XP_011520783.1:p.Leu1303=
XM_017023212.1:c.4083C=	XP_016878701.1:p.Leu1361=
XM_024450261.1:c.4287C=	XP_024306029.1:p.Leu1429=
NM_001171.6:c.4251C= MANE Select	NP_001162.5:p.Leu1417=