Canonical Allele Identifier: CA394883714

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244460G>C (hg19) ; chr16:g.16150603G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150603G>C , CM000678.2:g.16150603G>C	GRCh38
NC_000016.9:g.16244460G>C , CM000678.1:g.16244460G>C	GRCh37
NC_000016.8:g.16151961G>C	NCBI36
NG_007558.2:g.77869C>G
NG_007558.3:g.78015C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*550C>G	ENSP00000483331.2:n.*550C>G
ENST00000205557.12:c.4378C>G MANE Select	ENSP00000205557.7:p.Leu1460Val
ENST00000640696.1:c.1192C>G	ENSP00000492197.1:p.Leu398Val
ENST00000205557.11:c.4378C>G	ENSP00000205557.7:p.Leu1460Val
ENST00000456970.6:c.4003C>G	ENSP00000405002.2:n.4003C>G
ENST00000576204.5:n.1241C>G
ENST00000622290.4:c.*1587C>G	ENSP00000483331.1:n.*1587C>G
NM_001171.5:c.4378C>G	NP_001162.4:p.Leu1460Val
XM_011522479.1:c.4345C>G	XP_011520781.1:p.Leu1449Val
XM_011522480.1:c.4036C>G	XP_011520782.1:p.Leu1346Val
XM_011522481.1:c.4036C>G	XP_011520783.1:p.Leu1346Val
XR_933134.1:n.538+6313G>C
NM_001351800.1:c.4036C>G	NP_001338729.1:p.Leu1346Val
NR_147784.1:n.4040C>G
XM_011522479.2:c.4345C>G	XP_011520781.1:p.Leu1449Val
XM_011522481.3:c.4036C>G	XP_011520783.1:p.Leu1346Val
XM_017023212.1:c.4210C>G	XP_016878701.1:p.Leu1404Val
XM_024450261.1:c.4414C>G	XP_024306029.1:p.Leu1472Val
NM_001171.6:c.4378C>G MANE Select	NP_001162.5:p.Leu1460Val