Canonical Allele Identifier: CA394875883

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248833A>T (hg19) ; chr16:g.16154976A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154976A>T , CM000678.2:g.16154976A>T	GRCh38
NC_000016.9:g.16248833A>T , CM000678.1:g.16248833A>T	GRCh37
NC_000016.8:g.16156334A>T	NCBI36
NG_007558.2:g.73496T>A
NG_007558.3:g.73642T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.801T>A
ENST00000622290.5:c.*110T>A	ENSP00000483331.2:n.*110T>A
ENST00000205557.12:c.3938T>A MANE Select	ENSP00000205557.7:p.Leu1313Gln
ENST00000640696.1:c.752T>A	ENSP00000492197.1:p.Leu251Gln
ENST00000205557.11:c.3938T>A	ENSP00000205557.7:p.Leu1313Gln
ENST00000456970.6:c.3563T>A	ENSP00000405002.2:n.3563T>A
ENST00000576204.5:n.801T>A
ENST00000622290.4:c.*1147T>A	ENSP00000483331.1:n.*1147T>A
NM_001171.5:c.3938T>A	NP_001162.4:p.Leu1313Gln
XM_011522479.1:c.3905T>A	XP_011520781.1:p.Leu1302Gln
XM_011522480.1:c.3596T>A	XP_011520782.1:p.Leu1199Gln
XM_011522481.1:c.3596T>A	XP_011520783.1:p.Leu1199Gln
XR_932836.1:n.4236T>A
XR_932837.1:n.3974T>A
XR_932838.1:n.4037T>A
XR_933134.1:n.539-4805A>T
NM_001351800.1:c.3596T>A	NP_001338729.1:p.Leu1199Gln
NR_147784.1:n.3600T>A
XM_011522479.2:c.3905T>A	XP_011520781.1:p.Leu1302Gln
XM_011522481.3:c.3596T>A	XP_011520783.1:p.Leu1199Gln
XM_017023212.1:c.3770T>A	XP_016878701.1:p.Leu1257Gln
XM_024450261.1:c.3974T>A	XP_024306029.1:p.Leu1325Gln
XR_932836.2:n.4182T>A
XR_932837.3:n.3919T>A
XR_932838.3:n.3982T>A
NM_001171.6:c.3938T>A MANE Select	NP_001162.5:p.Leu1313Gln