Canonical Allele Identifier: CA493797275

Gene: ABCC6

Linked Data

• COSMIC: COSM1717916
• MyVariant Identifiers: chr16:g.16248805C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154948C>T , CM000678.2:g.16154948C>T	GRCh38
NC_000016.9:g.16248805C>T , CM000678.1:g.16248805C>T	GRCh37
NC_000016.8:g.16156306C>T	NCBI36
NG_007558.2:g.73524G>A
NG_007558.3:g.73670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.829G>A
ENST00000622290.5:c.*138G>A	ENSP00000483331.2:n.*138G>A
ENST00000205557.12:c.3966G>A MANE Select	ENSP00000205557.7:p.Gly1322=
ENST00000640696.1:c.780G>A	ENSP00000492197.1:p.Gly260=
ENST00000205557.11:c.3966G>A	ENSP00000205557.7:p.Gly1322=
ENST00000456970.6:c.3591G>A	ENSP00000405002.2:n.3591G>A
ENST00000576204.5:n.829G>A
ENST00000622290.4:c.*1175G>A	ENSP00000483331.1:n.*1175G>A
NM_001171.5:c.3966G>A	NP_001162.4:p.Gly1322=
XM_011522479.1:c.3933G>A	XP_011520781.1:p.Gly1311=
XM_011522480.1:c.3624G>A	XP_011520782.1:p.Gly1208=
XM_011522481.1:c.3624G>A	XP_011520783.1:p.Gly1208=
XR_932836.1:n.4264G>A
XR_932837.1:n.4002G>A
XR_932838.1:n.4065G>A
XR_933134.1:n.539-4833C>T
NM_001351800.1:c.3624G>A	NP_001338729.1:p.Gly1208=
NR_147784.1:n.3628G>A
XM_011522479.2:c.3933G>A	XP_011520781.1:p.Gly1311=
XM_011522481.3:c.3624G>A	XP_011520783.1:p.Gly1208=
XM_017023212.1:c.3798G>A	XP_016878701.1:p.Gly1266=
XM_024450261.1:c.4002G>A	XP_024306029.1:p.Gly1334=
XR_932837.3:n.3947G>A
NM_001171.6:c.3966G>A MANE Select	NP_001162.5:p.Gly1322=