Canonical Allele Identifier: CA365669076
Gene: ENPP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.132182759G>A (hg19) chr6:g.131861619G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131861619G>A , CM000668.2:g.131861619G>A GRCh38
NC_000006.11:g.132182759G>A , CM000668.1:g.132182759G>A GRCh37
NC_000006.10:g.132224452G>A NCBI36
NG_008206.1:g.58604G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647893.1:c.940G>A MANE Select ENSP00000498074.1:p.Gly314Ser
ENST00000650147.1:c.557G>A
ENST00000650437.1:c.431G>A
ENST00000360971.6:c.940G>A ENSP00000354238.2:p.Gly314Ser
ENST00000459624.1:n.10G>A
ENST00000513998.5:c.940G>A ENSP00000422424.1:p.Gly314Ser
NM_006208.2:c.940G>A NP_006199.2:p.Gly314Ser
NM_006208.3:c.940G>A MANE Select NP_006199.2:p.Gly314Ser
Search 100 bp 5'
Search 100 bp 3'