Canonical Allele Identifier: CA394883681

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244443G>C (hg19) ; chr16:g.16150586G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150586G>C , CM000678.2:g.16150586G>C	GRCh38
NC_000016.9:g.16244443G>C , CM000678.1:g.16244443G>C	GRCh37
NC_000016.8:g.16151944G>C	NCBI36
NG_007558.2:g.77886C>G
NG_007558.3:g.78032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*567C>G	ENSP00000483331.2:n.*567C>G
ENST00000205557.12:c.4395C>G MANE Select	ENSP00000205557.7:p.Asp1465Glu
ENST00000640696.1:c.1209C>G	ENSP00000492197.1:p.Asp403Glu
ENST00000205557.11:c.4395C>G	ENSP00000205557.7:p.Asp1465Glu
ENST00000456970.6:c.4020C>G	ENSP00000405002.2:n.4020C>G
ENST00000576204.5:n.1258C>G
ENST00000622290.4:c.*1604C>G	ENSP00000483331.1:n.*1604C>G
NM_001171.5:c.4395C>G	NP_001162.4:p.Asp1465Glu
XM_011522479.1:c.4362C>G	XP_011520781.1:p.Asp1454Glu
XM_011522480.1:c.4053C>G	XP_011520782.1:p.Asp1351Glu
XM_011522481.1:c.4053C>G	XP_011520783.1:p.Asp1351Glu
XR_933134.1:n.538+6296G>C
NM_001351800.1:c.4053C>G	NP_001338729.1:p.Asp1351Glu
NR_147784.1:n.4057C>G
XM_011522479.2:c.4362C>G	XP_011520781.1:p.Asp1454Glu
XM_011522481.3:c.4053C>G	XP_011520783.1:p.Asp1351Glu
XM_017023212.1:c.4227C>G	XP_016878701.1:p.Asp1409Glu
XM_024450261.1:c.4431C>G	XP_024306029.1:p.Asp1477Glu
NM_001171.6:c.4395C>G MANE Select	NP_001162.5:p.Asp1465Glu