Canonical Allele Identifier: CA493797217

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248781A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154924A>T , CM000678.2:g.16154924A>T	GRCh38
NC_000016.9:g.16248781A>T , CM000678.1:g.16248781A>T	GRCh37
NC_000016.8:g.16156282A>T	NCBI36
NG_007558.2:g.73548T>A
NG_007558.3:g.73694T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.853T>A
ENST00000622290.5:c.*162T>A	ENSP00000483331.2:n.*162T>A
ENST00000205557.12:c.3990T>A MANE Select	ENSP00000205557.7:p.Ile1330=
ENST00000640696.1:c.804T>A	ENSP00000492197.1:p.Ile268=
ENST00000205557.11:c.3990T>A	ENSP00000205557.7:p.Ile1330=
ENST00000456970.6:c.3615T>A	ENSP00000405002.2:n.3615T>A
ENST00000576204.5:n.853T>A
ENST00000622290.4:c.*1199T>A	ENSP00000483331.1:n.*1199T>A
NM_001171.5:c.3990T>A	NP_001162.4:p.Ile1330=
XM_011522479.1:c.3957T>A	XP_011520781.1:p.Ile1319=
XM_011522480.1:c.3648T>A	XP_011520782.1:p.Ile1216=
XM_011522481.1:c.3648T>A	XP_011520783.1:p.Ile1216=
XR_933134.1:n.539-4857A>T
NM_001351800.1:c.3648T>A	NP_001338729.1:p.Ile1216=
NR_147784.1:n.3652T>A
XM_011522479.2:c.3957T>A	XP_011520781.1:p.Ile1319=
XM_011522481.3:c.3648T>A	XP_011520783.1:p.Ile1216=
XM_017023212.1:c.3822T>A	XP_016878701.1:p.Ile1274=
XM_024450261.1:c.4026T>A	XP_024306029.1:p.Ile1342=
NM_001171.6:c.3990T>A MANE Select	NP_001162.5:p.Ile1330=