Canonical Allele Identifier: CA394878756

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253380A>G (hg19) ; chr16:g.16159523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159523A>G , CM000678.2:g.16159523A>G	GRCh38
NC_000016.9:g.16253380A>G , CM000678.1:g.16253380A>G	GRCh37
NC_000016.8:g.16160881A>G	NCBI36
NG_007558.2:g.68949T>C
NG_007558.3:g.69095T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3694T>C	ENSP00000483331.2:p.Ser1232Pro
ENST00000205557.12:c.3694T>C MANE Select	ENSP00000205557.7:p.Ser1232Pro
ENST00000640696.1:c.508T>C	ENSP00000492197.1:p.Ser170Pro
ENST00000205557.11:c.3694T>C	ENSP00000205557.7:p.Ser1232Pro
ENST00000456970.6:c.3319T>C	ENSP00000405002.2:n.3319T>C
ENST00000622290.4:c.*903T>C	ENSP00000483331.1:n.*903T>C
NM_001171.5:c.3694T>C	NP_001162.4:p.Ser1232Pro
XM_011522479.1:c.3661T>C	XP_011520781.1:p.Ser1221Pro
XM_011522480.1:c.3352T>C	XP_011520782.1:p.Ser1118Pro
XM_011522481.1:c.3352T>C	XP_011520783.1:p.Ser1118Pro
XR_932836.1:n.3929T>C
XR_932837.1:n.3730T>C
XR_932838.1:n.3730T>C
XR_933134.1:n.539-258A>G
NM_001351800.1:c.3352T>C	NP_001338729.1:p.Ser1118Pro
NR_147784.1:n.3356T>C
XM_011522479.2:c.3661T>C	XP_011520781.1:p.Ser1221Pro
XM_011522481.3:c.3352T>C	XP_011520783.1:p.Ser1118Pro
XM_017023212.1:c.3526T>C	XP_016878701.1:p.Ser1176Pro
XM_024450261.1:c.3730T>C	XP_024306029.1:p.Ser1244Pro
XR_932836.2:n.3875T>C
XR_932837.3:n.3675T>C
XR_932838.3:n.3675T>C
NM_001171.6:c.3694T>C MANE Select	NP_001162.5:p.Ser1232Pro