Canonical Allele Identifier: CA278636227

Gene: ABCC6

Linked Data

• dbSNP Id: rs750835224
• MyVariant Identifiers: chr16:g.16263647G>C (hg19) ; chr16:g.16169790G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169790G>C , CM000678.2:g.16169790G>C	GRCh38
NC_000016.9:g.16263647G>C , CM000678.1:g.16263647G>C	GRCh37
NC_000016.8:g.16171148G>C	NCBI36
NG_007558.2:g.58682C>G
NG_007558.3:g.58828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2851C>G	ENSP00000483331.2:p.Leu951Val
ENST00000205557.12:c.2851C>G MANE Select	ENSP00000205557.7:p.Leu951Val
ENST00000205557.11:c.2851C>G	ENSP00000205557.7:p.Leu951Val
ENST00000456970.6:c.2676C>G	ENSP00000405002.2:n.2676C>G
ENST00000622290.4:c.*60C>G	ENSP00000483331.1:n.*60C>G
NM_001171.5:c.2851C>G	NP_001162.4:p.Leu951Val
XM_011522479.1:c.2818C>G	XP_011520781.1:p.Leu940Val
XM_011522480.1:c.2509C>G	XP_011520782.1:p.Leu837Val
XM_011522481.1:c.2509C>G	XP_011520783.1:p.Leu837Val
XR_932836.1:n.3086C>G
XR_932837.1:n.3087C>G
XR_932838.1:n.3087C>G
NM_001351800.1:c.2509C>G	NP_001338729.1:p.Leu837Val
NR_147784.1:n.2713C>G
XM_011522479.2:c.2818C>G	XP_011520781.1:p.Leu940Val
XM_011522481.3:c.2509C>G	XP_011520783.1:p.Leu837Val
XM_017023212.1:c.2683C>G	XP_016878701.1:p.Leu895Val
XM_017023214.1:c.2851C>G	XP_016878703.1:p.Leu951Val
XM_024450261.1:c.2887C>G	XP_024306029.1:p.Leu963Val
XR_932836.2:n.3032C>G
XR_932837.3:n.3032C>G
XR_932838.3:n.3032C>G
NM_001171.6:c.2851C>G MANE Select	NP_001162.5:p.Leu951Val