Canonical Allele Identifier: CA394878917

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253425G>C (hg19) ; chr16:g.16159568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159568G>C , CM000678.2:g.16159568G>C	GRCh38
NC_000016.9:g.16253425G>C , CM000678.1:g.16253425G>C	GRCh37
NC_000016.8:g.16160926G>C	NCBI36
NG_007558.2:g.68904C>G
NG_007558.3:g.69050C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3649C>G	ENSP00000483331.2:p.Gln1217Glu
ENST00000205557.12:c.3649C>G MANE Select	ENSP00000205557.7:p.Gln1217Glu
ENST00000640696.1:c.463C>G	ENSP00000492197.1:p.Gln155Glu
ENST00000205557.11:c.3649C>G	ENSP00000205557.7:p.Gln1217Glu
ENST00000456970.6:c.3274C>G	ENSP00000405002.2:n.3274C>G
ENST00000622290.4:c.*858C>G	ENSP00000483331.1:n.*858C>G
NM_001171.5:c.3649C>G	NP_001162.4:p.Gln1217Glu
XM_011522479.1:c.3616C>G	XP_011520781.1:p.Gln1206Glu
XM_011522480.1:c.3307C>G	XP_011520782.1:p.Gln1103Glu
XM_011522481.1:c.3307C>G	XP_011520783.1:p.Gln1103Glu
XR_932836.1:n.3884C>G
XR_932837.1:n.3685C>G
XR_932838.1:n.3685C>G
XR_933134.1:n.539-213G>C
NM_001351800.1:c.3307C>G	NP_001338729.1:p.Gln1103Glu
NR_147784.1:n.3311C>G
XM_011522479.2:c.3616C>G	XP_011520781.1:p.Gln1206Glu
XM_011522481.3:c.3307C>G	XP_011520783.1:p.Gln1103Glu
XM_017023212.1:c.3481C>G	XP_016878701.1:p.Gln1161Glu
XM_024450261.1:c.3685C>G	XP_024306029.1:p.Gln1229Glu
XR_932836.2:n.3830C>G
XR_932837.3:n.3630C>G
XR_932838.3:n.3630C>G
NM_001171.6:c.3649C>G MANE Select	NP_001162.5:p.Gln1217Glu