Canonical Allele Identifier: CA493797190

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248750T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154893T>G , CM000678.2:g.16154893T>G	GRCh38
NC_000016.9:g.16248750T>G , CM000678.1:g.16248750T>G	GRCh37
NC_000016.8:g.16156251T>G	NCBI36
NG_007558.2:g.73579A>C
NG_007558.3:g.73725A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.884A>C
ENST00000622290.5:c.*193A>C	ENSP00000483331.2:n.*193A>C
ENST00000205557.12:c.4021A>C MANE Select	ENSP00000205557.7:p.Arg1341=
ENST00000640696.1:c.835A>C	ENSP00000492197.1:p.Arg279=
ENST00000205557.11:c.4021A>C	ENSP00000205557.7:p.Arg1341=
ENST00000456970.6:c.3646A>C	ENSP00000405002.2:n.3646A>C
ENST00000576204.5:n.884A>C
ENST00000622290.4:c.*1230A>C	ENSP00000483331.1:n.*1230A>C
NM_001171.5:c.4021A>C	NP_001162.4:p.Arg1341=
XM_011522479.1:c.3988A>C	XP_011520781.1:p.Arg1330=
XM_011522480.1:c.3679A>C	XP_011520782.1:p.Arg1227=
XM_011522481.1:c.3679A>C	XP_011520783.1:p.Arg1227=
XR_933134.1:n.539-4888T>G
NM_001351800.1:c.3679A>C	NP_001338729.1:p.Arg1227=
NR_147784.1:n.3683A>C
XM_011522479.2:c.3988A>C	XP_011520781.1:p.Arg1330=
XM_011522481.3:c.3679A>C	XP_011520783.1:p.Arg1227=
XM_017023212.1:c.3853A>C	XP_016878701.1:p.Arg1285=
XM_024450261.1:c.4057A>C	XP_024306029.1:p.Arg1353=
NM_001171.6:c.4021A>C MANE Select	NP_001162.5:p.Arg1341=