Canonical Allele Identifier: CA394884342

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248493C>G (hg19) ; chr16:g.16154636C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154636C>G , CM000678.2:g.16154636C>G	GRCh38
NC_000016.9:g.16248493C>G , CM000678.1:g.16248493C>G	GRCh37
NC_000016.8:g.16155994C>G	NCBI36
NG_007558.2:g.73836G>C
NG_007558.3:g.73982G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*372G>C	ENSP00000483331.2:n.*372G>C
ENST00000205557.12:c.4200G>C MANE Select	ENSP00000205557.7:p.Glu1400Asp
ENST00000640696.1:c.1014G>C	ENSP00000492197.1:p.Glu338Asp
ENST00000205557.11:c.4200G>C	ENSP00000205557.7:p.Glu1400Asp
ENST00000456970.6:c.3825G>C	ENSP00000405002.2:n.3825G>C
ENST00000576204.5:n.1063G>C
ENST00000622290.4:c.*1409G>C	ENSP00000483331.1:n.*1409G>C
NM_001171.5:c.4200G>C	NP_001162.4:p.Glu1400Asp
XM_011522479.1:c.4167G>C	XP_011520781.1:p.Glu1389Asp
XM_011522480.1:c.3858G>C	XP_011520782.1:p.Glu1286Asp
XM_011522481.1:c.3858G>C	XP_011520783.1:p.Glu1286Asp
XR_933134.1:n.539-5145C>G
NM_001351800.1:c.3858G>C	NP_001338729.1:p.Glu1286Asp
NR_147784.1:n.3862G>C
XM_011522479.2:c.4167G>C	XP_011520781.1:p.Glu1389Asp
XM_011522481.3:c.3858G>C	XP_011520783.1:p.Glu1286Asp
XM_017023212.1:c.4032G>C	XP_016878701.1:p.Glu1344Asp
XM_024450261.1:c.4236G>C	XP_024306029.1:p.Glu1412Asp
NM_001171.6:c.4200G>C MANE Select	NP_001162.5:p.Glu1400Asp