Canonical Allele Identifier: CA394884104

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244628C>G (hg19) ; chr16:g.16150771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150771C>G , CM000678.2:g.16150771C>G	GRCh38
NC_000016.9:g.16244628C>G , CM000678.1:g.16244628C>G	GRCh37
NC_000016.8:g.16152129C>G	NCBI36
NG_007558.2:g.77701G>C
NG_007558.3:g.77847G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*382G>C	ENSP00000483331.2:n.*382G>C
ENST00000205557.12:c.4210G>C MANE Select	ENSP00000205557.7:p.Val1404Leu
ENST00000640696.1:c.1024G>C	ENSP00000492197.1:p.Val342Leu
ENST00000205557.11:c.4210G>C	ENSP00000205557.7:p.Val1404Leu
ENST00000456970.6:c.3835G>C	ENSP00000405002.2:n.3835G>C
ENST00000576204.5:n.1073G>C
ENST00000622290.4:c.*1419G>C	ENSP00000483331.1:n.*1419G>C
NM_001171.5:c.4210G>C	NP_001162.4:p.Val1404Leu
XM_011522479.1:c.4177G>C	XP_011520781.1:p.Val1393Leu
XM_011522480.1:c.3868G>C	XP_011520782.1:p.Val1290Leu
XM_011522481.1:c.3868G>C	XP_011520783.1:p.Val1290Leu
XR_933134.1:n.538+6481C>G
NM_001351800.1:c.3868G>C	NP_001338729.1:p.Val1290Leu
NR_147784.1:n.3872G>C
XM_011522479.2:c.4177G>C	XP_011520781.1:p.Val1393Leu
XM_011522481.3:c.3868G>C	XP_011520783.1:p.Val1290Leu
XM_017023212.1:c.4042G>C	XP_016878701.1:p.Val1348Leu
XM_024450261.1:c.4246G>C	XP_024306029.1:p.Val1416Leu
NM_001171.6:c.4210G>C MANE Select	NP_001162.5:p.Val1404Leu