Canonical Allele Identifier: CA394882962

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259563C>T (hg19) ; chr16:g.16165706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165706C>T , CM000678.2:g.16165706C>T	GRCh38
NC_000016.9:g.16259563C>T , CM000678.1:g.16259563C>T	GRCh37
NC_000016.8:g.16167064C>T	NCBI36
NG_007558.2:g.62766G>A
NG_007558.3:g.62912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3223G>A	ENSP00000483331.2:p.Glu1075Lys
ENST00000205557.12:c.3223G>A MANE Select	ENSP00000205557.7:p.Glu1075Lys
ENST00000640696.1:c.238G>A	ENSP00000492197.1:p.Glu80Lys
ENST00000205557.11:c.3223G>A	ENSP00000205557.7:p.Glu1075Lys
ENST00000456970.6:c.3048G>A	ENSP00000405002.2:n.3048G>A
ENST00000622290.4:c.*432G>A	ENSP00000483331.1:n.*432G>A
NM_001171.5:c.3223G>A	NP_001162.4:p.Glu1075Lys
XM_011522479.1:c.3190G>A	XP_011520781.1:p.Glu1064Lys
XM_011522480.1:c.2881G>A	XP_011520782.1:p.Glu961Lys
XM_011522481.1:c.2881G>A	XP_011520783.1:p.Glu961Lys
XR_932836.1:n.3458G>A
XR_932837.1:n.3459G>A
XR_932838.1:n.3459G>A
NM_001351800.1:c.2881G>A	NP_001338729.1:p.Glu961Lys
NR_147784.1:n.3085G>A
XM_011522479.2:c.3190G>A	XP_011520781.1:p.Glu1064Lys
XM_011522481.3:c.2881G>A	XP_011520783.1:p.Glu961Lys
XM_017023212.1:c.3055G>A	XP_016878701.1:p.Glu1019Lys
XM_017023214.1:c.3223G>A	XP_016878703.1:p.Glu1075Lys
XM_024450261.1:c.3259G>A	XP_024306029.1:p.Glu1087Lys
XR_932836.2:n.3404G>A
XR_932837.3:n.3404G>A
XR_932838.3:n.3404G>A
NM_001171.6:c.3223G>A MANE Select	NP_001162.5:p.Glu1075Lys