Canonical Allele Identifier: CA493799692

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248580G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154723G>T , CM000678.2:g.16154723G>T	GRCh38
NC_000016.9:g.16248580G>T , CM000678.1:g.16248580G>T	GRCh37
NC_000016.8:g.16156081G>T	NCBI36
NG_007558.2:g.73749C>A
NG_007558.3:g.73895C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*285C>A	ENSP00000483331.2:n.*285C>A
ENST00000205557.12:c.4113C>A MANE Select	ENSP00000205557.7:p.Ile1371=
ENST00000640696.1:c.927C>A	ENSP00000492197.1:p.Ile309=
ENST00000205557.11:c.4113C>A	ENSP00000205557.7:p.Ile1371=
ENST00000456970.6:c.3738C>A	ENSP00000405002.2:n.3738C>A
ENST00000576204.5:n.976C>A
ENST00000622290.4:c.*1322C>A	ENSP00000483331.1:n.*1322C>A
NM_001171.5:c.4113C>A	NP_001162.4:p.Ile1371=
XM_011522479.1:c.4080C>A	XP_011520781.1:p.Ile1360=
XM_011522480.1:c.3771C>A	XP_011520782.1:p.Ile1257=
XM_011522481.1:c.3771C>A	XP_011520783.1:p.Ile1257=
XR_933134.1:n.539-5058G>T
NM_001351800.1:c.3771C>A	NP_001338729.1:p.Ile1257=
NR_147784.1:n.3775C>A
XM_011522479.2:c.4080C>A	XP_011520781.1:p.Ile1360=
XM_011522481.3:c.3771C>A	XP_011520783.1:p.Ile1257=
XM_017023212.1:c.3945C>A	XP_016878701.1:p.Ile1315=
XM_024450261.1:c.4149C>A	XP_024306029.1:p.Ile1383=
NM_001171.6:c.4113C>A MANE Select	NP_001162.5:p.Ile1371=