Canonical Allele Identifier: CA394883461

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244006T>G (hg19) ; chr16:g.16150149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150149T>G , CM000678.2:g.16150149T>G	GRCh38
NC_000016.9:g.16244006T>G , CM000678.1:g.16244006T>G	GRCh37
NC_000016.8:g.16151507T>G	NCBI36
NG_007558.2:g.78323A>C
NG_007558.3:g.78469A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*668A>C	ENSP00000483331.2:n.*668A>C
ENST00000205557.12:c.4496A>C MANE Select	ENSP00000205557.7:p.Glu1499Ala
ENST00000640696.1:c.1310A>C	ENSP00000492197.1:p.Glu437Ala
ENST00000205557.11:c.4496A>C	ENSP00000205557.7:p.Glu1499Ala
ENST00000456970.6:c.4121A>C	ENSP00000405002.2:n.4121A>C
ENST00000576204.5:n.1359A>C
ENST00000622290.4:c.*1705A>C	ENSP00000483331.1:n.*1705A>C
NM_001171.5:c.4496A>C	NP_001162.4:p.Glu1499Ala
XM_011522479.1:c.4463A>C	XP_011520781.1:p.Glu1488Ala
XM_011522480.1:c.4154A>C	XP_011520782.1:p.Glu1385Ala
XM_011522481.1:c.4154A>C	XP_011520783.1:p.Glu1385Ala
XR_933134.1:n.538+5859T>G
NM_001351800.1:c.4154A>C	NP_001338729.1:p.Glu1385Ala
NR_147784.1:n.4158A>C
XM_011522479.2:c.4463A>C	XP_011520781.1:p.Glu1488Ala
XM_011522481.3:c.4154A>C	XP_011520783.1:p.Glu1385Ala
XM_017023212.1:c.4328A>C	XP_016878701.1:p.Glu1443Ala
XM_024450261.1:c.4532A>C	XP_024306029.1:p.Glu1511Ala
NM_001171.6:c.4496A>C MANE Select	NP_001162.5:p.Glu1499Ala