Canonical Allele Identifier: CA394884649

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248588C>A (hg19) ; chr16:g.16154731C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154731C>A , CM000678.2:g.16154731C>A	GRCh38
NC_000016.9:g.16248588C>A , CM000678.1:g.16248588C>A	GRCh37
NC_000016.8:g.16156089C>A	NCBI36
NG_007558.2:g.73741G>T
NG_007558.3:g.73887G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.968G>T
ENST00000622290.5:c.*277G>T	ENSP00000483331.2:n.*277G>T
ENST00000205557.12:c.4105G>T MANE Select	ENSP00000205557.7:p.Glu1369Ter
ENST00000640696.1:c.919G>T	ENSP00000492197.1:p.Glu307Ter
ENST00000205557.11:c.4105G>T	ENSP00000205557.7:p.Glu1369Ter
ENST00000456970.6:c.3730G>T	ENSP00000405002.2:n.3730G>T
ENST00000576204.5:n.968G>T
ENST00000622290.4:c.*1314G>T	ENSP00000483331.1:n.*1314G>T
NM_001171.5:c.4105G>T	NP_001162.4:p.Glu1369Ter
XM_011522479.1:c.4072G>T	XP_011520781.1:p.Glu1358Ter
XM_011522480.1:c.3763G>T	XP_011520782.1:p.Glu1255Ter
XM_011522481.1:c.3763G>T	XP_011520783.1:p.Glu1255Ter
XR_933134.1:n.539-5050C>A
NM_001351800.1:c.3763G>T	NP_001338729.1:p.Glu1255Ter
NR_147784.1:n.3767G>T
XM_011522479.2:c.4072G>T	XP_011520781.1:p.Glu1358Ter
XM_011522481.3:c.3763G>T	XP_011520783.1:p.Glu1255Ter
XM_017023212.1:c.3937G>T	XP_016878701.1:p.Glu1313Ter
XM_024450261.1:c.4141G>T	XP_024306029.1:p.Glu1381Ter
NM_001171.6:c.4105G>T MANE Select	NP_001162.5:p.Glu1369Ter