Canonical Allele Identifier: CA394876242

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248878A>C (hg19) ; chr16:g.16155021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155021A>C , CM000678.2:g.16155021A>C	GRCh38
NC_000016.9:g.16248878A>C , CM000678.1:g.16248878A>C	GRCh37
NC_000016.8:g.16156379A>C	NCBI36
NG_007558.2:g.73451T>G
NG_007558.3:g.73597T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.756T>G
ENST00000622290.5:c.*65T>G	ENSP00000483331.2:n.*65T>G
ENST00000205557.12:c.3893T>G MANE Select	ENSP00000205557.7:p.Val1298Gly
ENST00000640696.1:c.707T>G	ENSP00000492197.1:p.Val236Gly
ENST00000205557.11:c.3893T>G	ENSP00000205557.7:p.Val1298Gly
ENST00000456970.6:c.3518T>G	ENSP00000405002.2:n.3518T>G
ENST00000576204.5:n.756T>G
ENST00000622290.4:c.*1102T>G	ENSP00000483331.1:n.*1102T>G
NM_001171.5:c.3893T>G	NP_001162.4:p.Val1298Gly
XM_011522479.1:c.3860T>G	XP_011520781.1:p.Val1287Gly
XM_011522480.1:c.3551T>G	XP_011520782.1:p.Val1184Gly
XM_011522481.1:c.3551T>G	XP_011520783.1:p.Val1184Gly
XR_932836.1:n.4191T>G
XR_932837.1:n.3929T>G
XR_932838.1:n.3992T>G
XR_933134.1:n.539-4760A>C
NM_001351800.1:c.3551T>G	NP_001338729.1:p.Val1184Gly
NR_147784.1:n.3555T>G
XM_011522479.2:c.3860T>G	XP_011520781.1:p.Val1287Gly
XM_011522481.3:c.3551T>G	XP_011520783.1:p.Val1184Gly
XM_017023212.1:c.3725T>G	XP_016878701.1:p.Val1242Gly
XM_024450261.1:c.3929T>G	XP_024306029.1:p.Val1310Gly
XR_932836.2:n.4137T>G
XR_932837.3:n.3874T>G
XR_932838.3:n.3937T>G
NM_001171.6:c.3893T>G MANE Select	NP_001162.5:p.Val1298Gly