Canonical Allele Identifier: CA394878948

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253433T>G (hg19) ; chr16:g.16159576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159576T>G , CM000678.2:g.16159576T>G	GRCh38
NC_000016.9:g.16253433T>G , CM000678.1:g.16253433T>G	GRCh37
NC_000016.8:g.16160934T>G	NCBI36
NG_007558.2:g.68896A>C
NG_007558.3:g.69042A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3641A>C	ENSP00000483331.2:p.Gln1214Pro
ENST00000205557.12:c.3641A>C MANE Select	ENSP00000205557.7:p.Gln1214Pro
ENST00000640696.1:c.455A>C	ENSP00000492197.1:p.Gln152Pro
ENST00000205557.11:c.3641A>C	ENSP00000205557.7:p.Gln1214Pro
ENST00000456970.6:c.3266A>C	ENSP00000405002.2:n.3266A>C
ENST00000622290.4:c.*850A>C	ENSP00000483331.1:n.*850A>C
NM_001171.5:c.3641A>C	NP_001162.4:p.Gln1214Pro
XM_011522479.1:c.3608A>C	XP_011520781.1:p.Gln1203Pro
XM_011522480.1:c.3299A>C	XP_011520782.1:p.Gln1100Pro
XM_011522481.1:c.3299A>C	XP_011520783.1:p.Gln1100Pro
XR_932836.1:n.3876A>C
XR_932837.1:n.3677A>C
XR_932838.1:n.3677A>C
XR_933134.1:n.539-205T>G
NM_001351800.1:c.3299A>C	NP_001338729.1:p.Gln1100Pro
NR_147784.1:n.3303A>C
XM_011522479.2:c.3608A>C	XP_011520781.1:p.Gln1203Pro
XM_011522481.3:c.3299A>C	XP_011520783.1:p.Gln1100Pro
XM_017023212.1:c.3473A>C	XP_016878701.1:p.Gln1158Pro
XM_024450261.1:c.3677A>C	XP_024306029.1:p.Gln1226Pro
XR_932836.2:n.3822A>C
XR_932837.3:n.3622A>C
XR_932838.3:n.3622A>C
NM_001171.6:c.3641A>C MANE Select	NP_001162.5:p.Gln1214Pro