Canonical Allele Identifier: CA493799733

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248646G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154789G>T , CM000678.2:g.16154789G>T	GRCh38
NC_000016.9:g.16248646G>T , CM000678.1:g.16248646G>T	GRCh37
NC_000016.8:g.16156147G>T	NCBI36
NG_007558.2:g.73683C>A
NG_007558.3:g.73829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.910C>A
ENST00000622290.5:c.*219C>A	ENSP00000483331.2:n.*219C>A
ENST00000205557.12:c.4047C>A MANE Select	ENSP00000205557.7:p.Pro1349=
ENST00000640696.1:c.861C>A	ENSP00000492197.1:p.Pro287=
ENST00000205557.11:c.4047C>A	ENSP00000205557.7:p.Pro1349=
ENST00000456970.6:c.3672C>A	ENSP00000405002.2:n.3672C>A
ENST00000576204.5:n.910C>A
ENST00000622290.4:c.*1256C>A	ENSP00000483331.1:n.*1256C>A
NM_001171.5:c.4047C>A	NP_001162.4:p.Pro1349=
XM_011522479.1:c.4014C>A	XP_011520781.1:p.Pro1338=
XM_011522480.1:c.3705C>A	XP_011520782.1:p.Pro1235=
XM_011522481.1:c.3705C>A	XP_011520783.1:p.Pro1235=
XR_933134.1:n.539-4992G>T
NM_001351800.1:c.3705C>A	NP_001338729.1:p.Pro1235=
NR_147784.1:n.3709C>A
XM_011522479.2:c.4014C>A	XP_011520781.1:p.Pro1338=
XM_011522481.3:c.3705C>A	XP_011520783.1:p.Pro1235=
XM_017023212.1:c.3879C>A	XP_016878701.1:p.Pro1293=
XM_024450261.1:c.4083C>A	XP_024306029.1:p.Pro1361=
NM_001171.6:c.4047C>A MANE Select	NP_001162.5:p.Pro1349=