Canonical Allele Identifier: CA394875475

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248750T>A (hg19) ; chr16:g.16154893T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.884A>T
ENST00000622290.5:c.*193A>T	ENSP00000483331.2:n.*193A>T
ENST00000205557.12:c.4021A>T MANE Select	ENSP00000205557.7:p.Arg1341Trp
ENST00000640696.1:c.835A>T	ENSP00000492197.1:p.Arg279Trp
ENST00000205557.11:c.4021A>T	ENSP00000205557.7:p.Arg1341Trp
ENST00000456970.6:c.3646A>T	ENSP00000405002.2:n.3646A>T
ENST00000576204.5:n.884A>T
ENST00000622290.4:c.*1230A>T	ENSP00000483331.1:n.*1230A>T
NM_001171.5:c.4021A>T	NP_001162.4:p.Arg1341Trp
XM_011522479.1:c.3988A>T	XP_011520781.1:p.Arg1330Trp
XM_011522480.1:c.3679A>T	XP_011520782.1:p.Arg1227Trp
XM_011522481.1:c.3679A>T	XP_011520783.1:p.Arg1227Trp
XR_933134.1:n.539-4888T>A
NM_001351800.1:c.3679A>T	NP_001338729.1:p.Arg1227Trp
NR_147784.1:n.3683A>T
XM_011522479.2:c.3988A>T	XP_011520781.1:p.Arg1330Trp
XM_011522481.3:c.3679A>T	XP_011520783.1:p.Arg1227Trp
XM_017023212.1:c.3853A>T	XP_016878701.1:p.Arg1285Trp
XM_024450261.1:c.4057A>T	XP_024306029.1:p.Arg1353Trp
NM_001171.6:c.4021A>T MANE Select	NP_001162.5:p.Arg1341Trp