Canonical Allele Identifier: CA394878877

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159559-C-T
• MyVariant Identifiers: chr16:g.16253416C>T (hg19) ; chr16:g.16159559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159559C>T , CM000678.2:g.16159559C>T	GRCh38
NC_000016.9:g.16253416C>T , CM000678.1:g.16253416C>T	GRCh37
NC_000016.8:g.16160917C>T	NCBI36
NG_007558.2:g.68913G>A
NG_007558.3:g.69059G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3658G>A	ENSP00000483331.2:p.Val1220Ile
ENST00000205557.12:c.3658G>A MANE Select	ENSP00000205557.7:p.Val1220Ile
ENST00000640696.1:c.472G>A	ENSP00000492197.1:p.Val158Ile
ENST00000205557.11:c.3658G>A	ENSP00000205557.7:p.Val1220Ile
ENST00000456970.6:c.3283G>A	ENSP00000405002.2:n.3283G>A
ENST00000622290.4:c.*867G>A	ENSP00000483331.1:n.*867G>A
NM_001171.5:c.3658G>A	NP_001162.4:p.Val1220Ile
XM_011522479.1:c.3625G>A	XP_011520781.1:p.Val1209Ile
XM_011522480.1:c.3316G>A	XP_011520782.1:p.Val1106Ile
XM_011522481.1:c.3316G>A	XP_011520783.1:p.Val1106Ile
XR_932836.1:n.3893G>A
XR_932837.1:n.3694G>A
XR_932838.1:n.3694G>A
XR_933134.1:n.539-222C>T
NM_001351800.1:c.3316G>A	NP_001338729.1:p.Val1106Ile
NR_147784.1:n.3320G>A
XM_011522479.2:c.3625G>A	XP_011520781.1:p.Val1209Ile
XM_011522481.3:c.3316G>A	XP_011520783.1:p.Val1106Ile
XM_017023212.1:c.3490G>A	XP_016878701.1:p.Val1164Ile
XM_024450261.1:c.3694G>A	XP_024306029.1:p.Val1232Ile
XR_932836.2:n.3839G>A
XR_932837.3:n.3639G>A
XR_932838.3:n.3639G>A
NM_001171.6:c.3658G>A MANE Select	NP_001162.5:p.Val1220Ile