Canonical Allele Identifier: CA394875690

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248803A>G (hg19) ; chr16:g.16154946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154946A>G , CM000678.2:g.16154946A>G	GRCh38
NC_000016.9:g.16248803A>G , CM000678.1:g.16248803A>G	GRCh37
NC_000016.8:g.16156304A>G	NCBI36
NG_007558.2:g.73526T>C
NG_007558.3:g.73672T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.831T>C
ENST00000622290.5:c.*140T>C	ENSP00000483331.2:n.*140T>C
ENST00000205557.12:c.3968T>C MANE Select	ENSP00000205557.7:p.Ile1323Thr
ENST00000640696.1:c.782T>C	ENSP00000492197.1:p.Ile261Thr
ENST00000205557.11:c.3968T>C	ENSP00000205557.7:p.Ile1323Thr
ENST00000456970.6:c.3593T>C	ENSP00000405002.2:n.3593T>C
ENST00000576204.5:n.831T>C
ENST00000622290.4:c.*1177T>C	ENSP00000483331.1:n.*1177T>C
NM_001171.5:c.3968T>C	NP_001162.4:p.Ile1323Thr
XM_011522479.1:c.3935T>C	XP_011520781.1:p.Ile1312Thr
XM_011522480.1:c.3626T>C	XP_011520782.1:p.Ile1209Thr
XM_011522481.1:c.3626T>C	XP_011520783.1:p.Ile1209Thr
XR_932836.1:n.4266T>C
XR_932837.1:n.4004T>C
XR_932838.1:n.4067T>C
XR_933134.1:n.539-4835A>G
NM_001351800.1:c.3626T>C	NP_001338729.1:p.Ile1209Thr
NR_147784.1:n.3630T>C
XM_011522479.2:c.3935T>C	XP_011520781.1:p.Ile1312Thr
XM_011522481.3:c.3626T>C	XP_011520783.1:p.Ile1209Thr
XM_017023212.1:c.3800T>C	XP_016878701.1:p.Ile1267Thr
XM_024450261.1:c.4004T>C	XP_024306029.1:p.Ile1335Thr
XR_932837.3:n.3949T>C
NM_001171.6:c.3968T>C MANE Select	NP_001162.5:p.Ile1323Thr