Canonical Allele Identifier: CA4002321

Gene: ENPP1

Linked Data

• dbSNP Id: rs769580003
• ExAC: 6:132198157 T / C
• gnomAD v2: 6-132198157-T-C
• gnomAD v4: 6-131877017-T-C
• MyVariant Identifiers: chr6:g.132198157T>C (hg19) ; chr6:g.131877017T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877017T>C , CM000668.2:g.131877017T>C	GRCh38
NC_000006.11:g.132198157T>C , CM000668.1:g.132198157T>C	GRCh37
NC_000006.10:g.132239850T>C	NCBI36
NG_008206.1:g.74002T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.621T>C
ENST00000684536.1:n.247T>C
ENST00000647893.1:c.1749T>C MANE Select	ENSP00000498074.1:p.Pro583=
ENST00000647981.1:n.434T>C
ENST00000650437.1:c.1240T>C
ENST00000360971.6:c.1749T>C	ENSP00000354238.2:p.Pro583=
ENST00000459624.1:n.793T>C
ENST00000513998.5:c.*586T>C	ENSP00000422424.1:n.*586T>C
NM_006208.2:c.1749T>C	NP_006199.2:p.Pro583=
XM_011535896.1:c.639T>C	XP_011534198.1:p.Pro213=
NM_006208.3:c.1749T>C MANE Select	NP_006199.2:p.Pro583=