Canonical Allele Identifier: CA493798051

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253396T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159539T>G , CM000678.2:g.16159539T>G	GRCh38
NC_000016.9:g.16253396T>G , CM000678.1:g.16253396T>G	GRCh37
NC_000016.8:g.16160897T>G	NCBI36
NG_007558.2:g.68933A>C
NG_007558.3:g.69079A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3678A>C	ENSP00000483331.2:p.Leu1226=
ENST00000205557.12:c.3678A>C MANE Select	ENSP00000205557.7:p.Leu1226=
ENST00000640696.1:c.492A>C	ENSP00000492197.1:p.Leu164=
ENST00000205557.11:c.3678A>C	ENSP00000205557.7:p.Leu1226=
ENST00000456970.6:c.3303A>C	ENSP00000405002.2:n.3303A>C
ENST00000622290.4:c.*887A>C	ENSP00000483331.1:n.*887A>C
NM_001171.5:c.3678A>C	NP_001162.4:p.Leu1226=
XM_011522479.1:c.3645A>C	XP_011520781.1:p.Leu1215=
XM_011522480.1:c.3336A>C	XP_011520782.1:p.Leu1112=
XM_011522481.1:c.3336A>C	XP_011520783.1:p.Leu1112=
XR_932836.1:n.3913A>C
XR_932837.1:n.3714A>C
XR_932838.1:n.3714A>C
XR_933134.1:n.539-242T>G
NM_001351800.1:c.3336A>C	NP_001338729.1:p.Leu1112=
NR_147784.1:n.3340A>C
XM_011522479.2:c.3645A>C	XP_011520781.1:p.Leu1215=
XM_011522481.3:c.3336A>C	XP_011520783.1:p.Leu1112=
XM_017023212.1:c.3510A>C	XP_016878701.1:p.Leu1170=
XM_024450261.1:c.3714A>C	XP_024306029.1:p.Leu1238=
XR_932836.2:n.3859A>C
XR_932837.3:n.3659A>C
XR_932838.3:n.3659A>C
NM_001171.6:c.3678A>C MANE Select	NP_001162.5:p.Leu1226=