Canonical Allele Identifier: CA394890870

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16297274G>T (hg19) ; chr16:g.16203417G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16203417G>T , CM000678.2:g.16203417G>T	GRCh38
NC_000016.9:g.16297274G>T , CM000678.1:g.16297274G>T	GRCh37
NC_000016.8:g.16204775G>T	NCBI36
NG_007558.2:g.25055C>A
NG_007558.3:g.25201C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.991C>A	ENSP00000507301.1:p.Leu331Met
ENST00000622290.5:c.991C>A	ENSP00000483331.2:p.Leu331Met
ENST00000205557.12:c.991C>A MANE Select	ENSP00000205557.7:p.Leu331Met
ENST00000205557.11:c.991C>A	ENSP00000205557.7:p.Leu331Met
ENST00000456970.6:c.991C>A	ENSP00000405002.2:p.Leu331Met
ENST00000574094.5:n.1087C>A
ENST00000577103.1:c.*858C>A	ENSP00000459243.1:n.*858C>A
ENST00000622290.4:c.991C>A	ENSP00000483331.1:p.Leu331Met
NM_001171.5:c.991C>A	NP_001162.4:p.Leu331Met
XM_011522479.1:c.991C>A	XP_011520781.1:p.Leu331Met
XM_011522480.1:c.649C>A	XP_011520782.1:p.Leu217Met
XM_011522481.1:c.649C>A	XP_011520783.1:p.Leu217Met
XM_011522482.1:c.991C>A	XP_011520784.1:p.Leu331Met
XR_932836.1:n.1226C>A
XR_932837.1:n.1227C>A
XR_932838.1:n.1227C>A
NM_001351800.1:c.649C>A	NP_001338729.1:p.Leu217Met
NR_147784.1:n.1028C>A
XM_011522479.2:c.991C>A	XP_011520781.1:p.Leu331Met
XM_011522481.3:c.649C>A	XP_011520783.1:p.Leu217Met
XM_011522482.3:c.991C>A	XP_011520784.1:p.Leu331Met
XM_017023212.1:c.991C>A	XP_016878701.1:p.Leu331Met
XM_017023214.1:c.991C>A	XP_016878703.1:p.Leu331Met
XM_024450261.1:c.1027C>A	XP_024306029.1:p.Leu343Met
XR_932836.2:n.1172C>A
XR_932837.3:n.1172C>A
XR_932838.3:n.1172C>A
NM_001171.6:c.991C>A MANE Select	NP_001162.5:p.Leu331Met