Canonical Allele Identifier: CA394875658

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248797A>G (hg19) ; chr16:g.16154940A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154940A>G , CM000678.2:g.16154940A>G	GRCh38
NC_000016.9:g.16248797A>G , CM000678.1:g.16248797A>G	GRCh37
NC_000016.8:g.16156298A>G	NCBI36
NG_007558.2:g.73532T>C
NG_007558.3:g.73678T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.837T>C
ENST00000622290.5:c.*146T>C	ENSP00000483331.2:n.*146T>C
ENST00000205557.12:c.3974T>C MANE Select	ENSP00000205557.7:p.Ile1325Thr
ENST00000640696.1:c.788T>C	ENSP00000492197.1:p.Ile263Thr
ENST00000205557.11:c.3974T>C	ENSP00000205557.7:p.Ile1325Thr
ENST00000456970.6:c.3599T>C	ENSP00000405002.2:n.3599T>C
ENST00000576204.5:n.837T>C
ENST00000622290.4:c.*1183T>C	ENSP00000483331.1:n.*1183T>C
NM_001171.5:c.3974T>C	NP_001162.4:p.Ile1325Thr
XM_011522479.1:c.3941T>C	XP_011520781.1:p.Ile1314Thr
XM_011522480.1:c.3632T>C	XP_011520782.1:p.Ile1211Thr
XM_011522481.1:c.3632T>C	XP_011520783.1:p.Ile1211Thr
XR_933134.1:n.539-4841A>G
NM_001351800.1:c.3632T>C	NP_001338729.1:p.Ile1211Thr
NR_147784.1:n.3636T>C
XM_011522479.2:c.3941T>C	XP_011520781.1:p.Ile1314Thr
XM_011522481.3:c.3632T>C	XP_011520783.1:p.Ile1211Thr
XM_017023212.1:c.3806T>C	XP_016878701.1:p.Ile1269Thr
XM_024450261.1:c.4010T>C	XP_024306029.1:p.Ile1337Thr
NM_001171.6:c.3974T>C MANE Select	NP_001162.5:p.Ile1325Thr