Canonical Allele Identifier: CA394875737

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248812T>G (hg19) ; chr16:g.16154955T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154955T>G , CM000678.2:g.16154955T>G	GRCh38
NC_000016.9:g.16248812T>G , CM000678.1:g.16248812T>G	GRCh37
NC_000016.8:g.16156313T>G	NCBI36
NG_007558.2:g.73517A>C
NG_007558.3:g.73663A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.822A>C
ENST00000622290.5:c.*131A>C	ENSP00000483331.2:n.*131A>C
ENST00000205557.12:c.3959A>C MANE Select	ENSP00000205557.7:p.Glu1320Ala
ENST00000640696.1:c.773A>C	ENSP00000492197.1:p.Glu258Ala
ENST00000205557.11:c.3959A>C	ENSP00000205557.7:p.Glu1320Ala
ENST00000456970.6:c.3584A>C	ENSP00000405002.2:n.3584A>C
ENST00000576204.5:n.822A>C
ENST00000622290.4:c.*1168A>C	ENSP00000483331.1:n.*1168A>C
NM_001171.5:c.3959A>C	NP_001162.4:p.Glu1320Ala
XM_011522479.1:c.3926A>C	XP_011520781.1:p.Glu1309Ala
XM_011522480.1:c.3617A>C	XP_011520782.1:p.Glu1206Ala
XM_011522481.1:c.3617A>C	XP_011520783.1:p.Glu1206Ala
XR_932836.1:n.4257A>C
XR_932837.1:n.3995A>C
XR_932838.1:n.4058A>C
XR_933134.1:n.539-4826T>G
NM_001351800.1:c.3617A>C	NP_001338729.1:p.Glu1206Ala
NR_147784.1:n.3621A>C
XM_011522479.2:c.3926A>C	XP_011520781.1:p.Glu1309Ala
XM_011522481.3:c.3617A>C	XP_011520783.1:p.Glu1206Ala
XM_017023212.1:c.3791A>C	XP_016878701.1:p.Glu1264Ala
XM_024450261.1:c.3995A>C	XP_024306029.1:p.Glu1332Ala
XR_932837.3:n.3940A>C
NM_001171.6:c.3959A>C MANE Select	NP_001162.5:p.Glu1320Ala