Canonical Allele Identifier: CA394875570

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248771C>A (hg19) ; chr16:g.16154914C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154914C>A , CM000678.2:g.16154914C>A	GRCh38
NC_000016.9:g.16248771C>A , CM000678.1:g.16248771C>A	GRCh37
NC_000016.8:g.16156272C>A	NCBI36
NG_007558.2:g.73558G>T
NG_007558.3:g.73704G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.863G>T
ENST00000622290.5:c.*172G>T	ENSP00000483331.2:n.*172G>T
ENST00000205557.12:c.4000G>T MANE Select	ENSP00000205557.7:p.Gly1334Trp
ENST00000640696.1:c.814G>T	ENSP00000492197.1:p.Gly272Trp
ENST00000205557.11:c.4000G>T	ENSP00000205557.7:p.Gly1334Trp
ENST00000456970.6:c.3625G>T	ENSP00000405002.2:n.3625G>T
ENST00000576204.5:n.863G>T
ENST00000622290.4:c.*1209G>T	ENSP00000483331.1:n.*1209G>T
NM_001171.5:c.4000G>T	NP_001162.4:p.Gly1334Trp
XM_011522479.1:c.3967G>T	XP_011520781.1:p.Gly1323Trp
XM_011522480.1:c.3658G>T	XP_011520782.1:p.Gly1220Trp
XM_011522481.1:c.3658G>T	XP_011520783.1:p.Gly1220Trp
XR_933134.1:n.539-4867C>A
NM_001351800.1:c.3658G>T	NP_001338729.1:p.Gly1220Trp
NR_147784.1:n.3662G>T
XM_011522479.2:c.3967G>T	XP_011520781.1:p.Gly1323Trp
XM_011522481.3:c.3658G>T	XP_011520783.1:p.Gly1220Trp
XM_017023212.1:c.3832G>T	XP_016878701.1:p.Gly1278Trp
XM_024450261.1:c.4036G>T	XP_024306029.1:p.Gly1346Trp
NM_001171.6:c.4000G>T MANE Select	NP_001162.5:p.Gly1334Trp