Canonical Allele Identifier: CA394878664

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253341C>G (hg19) ; chr16:g.16159484C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159484C>G , CM000678.2:g.16159484C>G	GRCh38
NC_000016.9:g.16253341C>G , CM000678.1:g.16253341C>G	GRCh37
NC_000016.8:g.16160842C>G	NCBI36
NG_007558.2:g.68988G>C
NG_007558.3:g.69134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3733G>C	ENSP00000483331.2:p.Glu1245Gln
ENST00000205557.12:c.3733G>C MANE Select	ENSP00000205557.7:p.Glu1245Gln
ENST00000640696.1:c.547G>C	ENSP00000492197.1:p.Glu183Gln
ENST00000205557.11:c.3733G>C	ENSP00000205557.7:p.Glu1245Gln
ENST00000456970.6:c.3358G>C	ENSP00000405002.2:n.3358G>C
ENST00000622290.4:c.*942G>C	ENSP00000483331.1:n.*942G>C
NM_001171.5:c.3733G>C	NP_001162.4:p.Glu1245Gln
XM_011522479.1:c.3700G>C	XP_011520781.1:p.Glu1234Gln
XM_011522480.1:c.3391G>C	XP_011520782.1:p.Glu1131Gln
XM_011522481.1:c.3391G>C	XP_011520783.1:p.Glu1131Gln
XR_932836.1:n.3968G>C
XR_932837.1:n.3769G>C
XR_932838.1:n.3769G>C
XR_933134.1:n.539-297C>G
NM_001351800.1:c.3391G>C	NP_001338729.1:p.Glu1131Gln
NR_147784.1:n.3395G>C
XM_011522479.2:c.3700G>C	XP_011520781.1:p.Glu1234Gln
XM_011522481.3:c.3391G>C	XP_011520783.1:p.Glu1131Gln
XM_017023212.1:c.3565G>C	XP_016878701.1:p.Glu1189Gln
XM_024450261.1:c.3769G>C	XP_024306029.1:p.Glu1257Gln
XR_932836.2:n.3914G>C
XR_932837.3:n.3714G>C
XR_932838.3:n.3714G>C
NM_001171.6:c.3733G>C MANE Select	NP_001162.5:p.Glu1245Gln