Canonical Allele Identifier: CA394878742

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253373T>C (hg19) ; chr16:g.16159516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159516T>C , CM000678.2:g.16159516T>C	GRCh38
NC_000016.9:g.16253373T>C , CM000678.1:g.16253373T>C	GRCh37
NC_000016.8:g.16160874T>C	NCBI36
NG_007558.2:g.68956A>G
NG_007558.3:g.69102A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3701A>G	ENSP00000483331.2:p.Glu1234Gly
ENST00000205557.12:c.3701A>G MANE Select	ENSP00000205557.7:p.Glu1234Gly
ENST00000640696.1:c.515A>G	ENSP00000492197.1:p.Glu172Gly
ENST00000205557.11:c.3701A>G	ENSP00000205557.7:p.Glu1234Gly
ENST00000456970.6:c.3326A>G	ENSP00000405002.2:n.3326A>G
ENST00000622290.4:c.*910A>G	ENSP00000483331.1:n.*910A>G
NM_001171.5:c.3701A>G	NP_001162.4:p.Glu1234Gly
XM_011522479.1:c.3668A>G	XP_011520781.1:p.Glu1223Gly
XM_011522480.1:c.3359A>G	XP_011520782.1:p.Glu1120Gly
XM_011522481.1:c.3359A>G	XP_011520783.1:p.Glu1120Gly
XR_932836.1:n.3936A>G
XR_932837.1:n.3737A>G
XR_932838.1:n.3737A>G
XR_933134.1:n.539-265T>C
NM_001351800.1:c.3359A>G	NP_001338729.1:p.Glu1120Gly
NR_147784.1:n.3363A>G
XM_011522479.2:c.3668A>G	XP_011520781.1:p.Glu1223Gly
XM_011522481.3:c.3359A>G	XP_011520783.1:p.Glu1120Gly
XM_017023212.1:c.3533A>G	XP_016878701.1:p.Glu1178Gly
XM_024450261.1:c.3737A>G	XP_024306029.1:p.Glu1246Gly
XR_932836.2:n.3882A>G
XR_932837.3:n.3682A>G
XR_932838.3:n.3682A>G
NM_001171.6:c.3701A>G MANE Select	NP_001162.5:p.Glu1234Gly