Canonical Allele Identifier: CA493797232

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248787G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154930G>T , CM000678.2:g.16154930G>T	GRCh38
NC_000016.9:g.16248787G>T , CM000678.1:g.16248787G>T	GRCh37
NC_000016.8:g.16156288G>T	NCBI36
NG_007558.2:g.73542C>A
NG_007558.3:g.73688C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.847C>A
ENST00000622290.5:c.*156C>A	ENSP00000483331.2:n.*156C>A
ENST00000205557.12:c.3984C>A MANE Select	ENSP00000205557.7:p.Val1328=
ENST00000640696.1:c.798C>A	ENSP00000492197.1:p.Val266=
ENST00000205557.11:c.3984C>A	ENSP00000205557.7:p.Val1328=
ENST00000456970.6:c.3609C>A	ENSP00000405002.2:n.3609C>A
ENST00000576204.5:n.847C>A
ENST00000622290.4:c.*1193C>A	ENSP00000483331.1:n.*1193C>A
NM_001171.5:c.3984C>A	NP_001162.4:p.Val1328=
XM_011522479.1:c.3951C>A	XP_011520781.1:p.Val1317=
XM_011522480.1:c.3642C>A	XP_011520782.1:p.Val1214=
XM_011522481.1:c.3642C>A	XP_011520783.1:p.Val1214=
XR_933134.1:n.539-4851G>T
NM_001351800.1:c.3642C>A	NP_001338729.1:p.Val1214=
NR_147784.1:n.3646C>A
XM_011522479.2:c.3951C>A	XP_011520781.1:p.Val1317=
XM_011522481.3:c.3642C>A	XP_011520783.1:p.Val1214=
XM_017023212.1:c.3816C>A	XP_016878701.1:p.Val1272=
XM_024450261.1:c.4020C>A	XP_024306029.1:p.Val1340=
NM_001171.6:c.3984C>A MANE Select	NP_001162.5:p.Val1328=