Canonical Allele Identifier: CA494088320

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259558G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165701G>T , CM000678.2:g.16165701G>T	GRCh38
NC_000016.9:g.16259558G>T , CM000678.1:g.16259558G>T	GRCh37
NC_000016.8:g.16167059G>T	NCBI36
NG_007558.2:g.62771C>A
NG_007558.3:g.62917C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3228C>A	ENSP00000483331.2:p.Val1076=
ENST00000205557.12:c.3228C>A MANE Select	ENSP00000205557.7:p.Val1076=
ENST00000640696.1:c.243C>A	ENSP00000492197.1:p.Val81=
ENST00000205557.11:c.3228C>A	ENSP00000205557.7:p.Val1076=
ENST00000456970.6:c.3053C>A	ENSP00000405002.2:n.3053C>A
ENST00000622290.4:c.*437C>A	ENSP00000483331.1:n.*437C>A
NM_001171.5:c.3228C>A	NP_001162.4:p.Val1076=
XM_011522479.1:c.3195C>A	XP_011520781.1:p.Val1065=
XM_011522480.1:c.2886C>A	XP_011520782.1:p.Val962=
XM_011522481.1:c.2886C>A	XP_011520783.1:p.Val962=
XR_932836.1:n.3463C>A
XR_932837.1:n.3464C>A
XR_932838.1:n.3464C>A
NM_001351800.1:c.2886C>A	NP_001338729.1:p.Val962=
NR_147784.1:n.3090C>A
XM_011522479.2:c.3195C>A	XP_011520781.1:p.Val1065=
XM_011522481.3:c.2886C>A	XP_011520783.1:p.Val962=
XM_017023212.1:c.3060C>A	XP_016878701.1:p.Val1020=
XM_017023214.1:c.3228C>A	XP_016878703.1:p.Val1076=
XM_024450261.1:c.3264C>A	XP_024306029.1:p.Val1088=
XR_932836.2:n.3409C>A
XR_932837.3:n.3409C>A
XR_932838.3:n.3409C>A
NM_001171.6:c.3228C>A MANE Select	NP_001162.5:p.Val1076=