Canonical Allele Identifier: CA394883027

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259587G>C (hg19) ; chr16:g.16165730G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165730G>C , CM000678.2:g.16165730G>C	GRCh38
NC_000016.9:g.16259587G>C , CM000678.1:g.16259587G>C	GRCh37
NC_000016.8:g.16167088G>C	NCBI36
NG_007558.2:g.62742C>G
NG_007558.3:g.62888C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3199C>G	ENSP00000483331.2:p.Leu1067Val
ENST00000205557.12:c.3199C>G MANE Select	ENSP00000205557.7:p.Leu1067Val
ENST00000640696.1:c.214C>G	ENSP00000492197.1:p.Leu72Val
ENST00000205557.11:c.3199C>G	ENSP00000205557.7:p.Leu1067Val
ENST00000456970.6:c.3024C>G	ENSP00000405002.2:n.3024C>G
ENST00000622290.4:c.*408C>G	ENSP00000483331.1:n.*408C>G
NM_001171.5:c.3199C>G	NP_001162.4:p.Leu1067Val
XM_011522479.1:c.3166C>G	XP_011520781.1:p.Leu1056Val
XM_011522480.1:c.2857C>G	XP_011520782.1:p.Leu953Val
XM_011522481.1:c.2857C>G	XP_011520783.1:p.Leu953Val
XR_932836.1:n.3434C>G
XR_932837.1:n.3435C>G
XR_932838.1:n.3435C>G
NM_001351800.1:c.2857C>G	NP_001338729.1:p.Leu953Val
NR_147784.1:n.3061C>G
XM_011522479.2:c.3166C>G	XP_011520781.1:p.Leu1056Val
XM_011522481.3:c.2857C>G	XP_011520783.1:p.Leu953Val
XM_017023212.1:c.3031C>G	XP_016878701.1:p.Leu1011Val
XM_017023214.1:c.3199C>G	XP_016878703.1:p.Leu1067Val
XM_024450261.1:c.3235C>G	XP_024306029.1:p.Leu1079Val
XR_932836.2:n.3380C>G
XR_932837.3:n.3380C>G
XR_932838.3:n.3380C>G
NM_001171.6:c.3199C>G MANE Select	NP_001162.5:p.Leu1067Val