Canonical Allele Identifier: CA4002330

Gene: ENPP1

Linked Data

• dbSNP Id: rs750907449
• ExAC: 6:132198208 T / C
• gnomAD v2: 6-132198208-T-C
• gnomAD v4: 6-131877068-T-C
• MyVariant Identifiers: chr6:g.132198208T>C (hg19) ; chr6:g.131877068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877068T>C , CM000668.2:g.131877068T>C	GRCh38
NC_000006.11:g.132198208T>C , CM000668.1:g.132198208T>C	GRCh37
NC_000006.10:g.132239901T>C	NCBI36
NG_008206.1:g.74053T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.672T>C
ENST00000684536.1:n.298T>C
ENST00000647893.1:c.1800T>C MANE Select	ENSP00000498074.1:p.Tyr600=
ENST00000647981.1:n.485T>C
ENST00000650437.1:c.1291T>C
ENST00000360971.6:c.1800T>C	ENSP00000354238.2:p.Tyr600=
ENST00000459624.1:n.844T>C
ENST00000513998.5:c.*637T>C	ENSP00000422424.1:n.*637T>C
NM_006208.2:c.1800T>C	NP_006199.2:p.Tyr600=
XM_011535896.1:c.690T>C	XP_011534198.1:p.Tyr230=
NM_006208.3:c.1800T>C MANE Select	NP_006199.2:p.Tyr600=