Canonical Allele Identifier: CA394875788

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248821T>G (hg19) ; chr16:g.16154964T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154964T>G , CM000678.2:g.16154964T>G	GRCh38
NC_000016.9:g.16248821T>G , CM000678.1:g.16248821T>G	GRCh37
NC_000016.8:g.16156322T>G	NCBI36
NG_007558.2:g.73508A>C
NG_007558.3:g.73654A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.813A>C
ENST00000622290.5:c.*122A>C	ENSP00000483331.2:n.*122A>C
ENST00000205557.12:c.3950A>C MANE Select	ENSP00000205557.7:p.Glu1317Ala
ENST00000640696.1:c.764A>C	ENSP00000492197.1:p.Glu255Ala
ENST00000205557.11:c.3950A>C	ENSP00000205557.7:p.Glu1317Ala
ENST00000456970.6:c.3575A>C	ENSP00000405002.2:n.3575A>C
ENST00000576204.5:n.813A>C
ENST00000622290.4:c.*1159A>C	ENSP00000483331.1:n.*1159A>C
NM_001171.5:c.3950A>C	NP_001162.4:p.Glu1317Ala
XM_011522479.1:c.3917A>C	XP_011520781.1:p.Glu1306Ala
XM_011522480.1:c.3608A>C	XP_011520782.1:p.Glu1203Ala
XM_011522481.1:c.3608A>C	XP_011520783.1:p.Glu1203Ala
XR_932836.1:n.4248A>C
XR_932837.1:n.3986A>C
XR_932838.1:n.4049A>C
XR_933134.1:n.539-4817T>G
NM_001351800.1:c.3608A>C	NP_001338729.1:p.Glu1203Ala
NR_147784.1:n.3612A>C
XM_011522479.2:c.3917A>C	XP_011520781.1:p.Glu1306Ala
XM_011522481.3:c.3608A>C	XP_011520783.1:p.Glu1203Ala
XM_017023212.1:c.3782A>C	XP_016878701.1:p.Glu1261Ala
XM_024450261.1:c.3986A>C	XP_024306029.1:p.Glu1329Ala
XR_932837.3:n.3931A>C
NM_001171.6:c.3950A>C MANE Select	NP_001162.5:p.Glu1317Ala