Canonical Allele Identifier: CA394883459

Gene: ABCC6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*668A>T	ENSP00000483331.2:n.*668A>T
ENST00000205557.12:c.4496A>T MANE Select	ENSP00000205557.7:p.Glu1499Val
ENST00000640696.1:c.1310A>T	ENSP00000492197.1:p.Glu437Val
ENST00000205557.11:c.4496A>T	ENSP00000205557.7:p.Glu1499Val
ENST00000456970.6:c.4121A>T	ENSP00000405002.2:n.4121A>T
ENST00000576204.5:n.1359A>T
ENST00000622290.4:c.*1705A>T	ENSP00000483331.1:n.*1705A>T
NM_001171.5:c.4496A>T	NP_001162.4:p.Glu1499Val
XM_011522479.1:c.4463A>T	XP_011520781.1:p.Glu1488Val
XM_011522480.1:c.4154A>T	XP_011520782.1:p.Glu1385Val
XM_011522481.1:c.4154A>T	XP_011520783.1:p.Glu1385Val
XR_933134.1:n.538+5859T>A
NM_001351800.1:c.4154A>T	NP_001338729.1:p.Glu1385Val
NR_147784.1:n.4158A>T
XM_011522479.2:c.4463A>T	XP_011520781.1:p.Glu1488Val
XM_011522481.3:c.4154A>T	XP_011520783.1:p.Glu1385Val
XM_017023212.1:c.4328A>T	XP_016878701.1:p.Glu1443Val
XM_024450261.1:c.4532A>T	XP_024306029.1:p.Glu1511Val
NM_001171.6:c.4496A>T MANE Select	NP_001162.5:p.Glu1499Val