Canonical Allele Identifier: CA394875594

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248780C>T (hg19) ; chr16:g.16154923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154923C>T , CM000678.2:g.16154923C>T	GRCh38
NC_000016.9:g.16248780C>T , CM000678.1:g.16248780C>T	GRCh37
NC_000016.8:g.16156281C>T	NCBI36
NG_007558.2:g.73549G>A
NG_007558.3:g.73695G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.854G>A
ENST00000622290.5:c.*163G>A	ENSP00000483331.2:n.*163G>A
ENST00000205557.12:c.3991G>A MANE Select	ENSP00000205557.7:p.Ala1331Thr
ENST00000640696.1:c.805G>A	ENSP00000492197.1:p.Ala269Thr
ENST00000205557.11:c.3991G>A	ENSP00000205557.7:p.Ala1331Thr
ENST00000456970.6:c.3616G>A	ENSP00000405002.2:n.3616G>A
ENST00000576204.5:n.854G>A
ENST00000622290.4:c.*1200G>A	ENSP00000483331.1:n.*1200G>A
NM_001171.5:c.3991G>A	NP_001162.4:p.Ala1331Thr
XM_011522479.1:c.3958G>A	XP_011520781.1:p.Ala1320Thr
XM_011522480.1:c.3649G>A	XP_011520782.1:p.Ala1217Thr
XM_011522481.1:c.3649G>A	XP_011520783.1:p.Ala1217Thr
XR_933134.1:n.539-4858C>T
NM_001351800.1:c.3649G>A	NP_001338729.1:p.Ala1217Thr
NR_147784.1:n.3653G>A
XM_011522479.2:c.3958G>A	XP_011520781.1:p.Ala1320Thr
XM_011522481.3:c.3649G>A	XP_011520783.1:p.Ala1217Thr
XM_017023212.1:c.3823G>A	XP_016878701.1:p.Ala1275Thr
XM_024450261.1:c.4027G>A	XP_024306029.1:p.Ala1343Thr
NM_001171.6:c.3991G>A MANE Select	NP_001162.5:p.Ala1331Thr