Canonical Allele Identifier: CA365651938

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198158A>C (hg19) ; chr6:g.131877018A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877018A>C , CM000668.2:g.131877018A>C	GRCh38
NC_000006.11:g.132198158A>C , CM000668.1:g.132198158A>C	GRCh37
NC_000006.10:g.132239851A>C	NCBI36
NG_008206.1:g.74003A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.622A>C
ENST00000684536.1:n.248A>C
ENST00000647893.1:c.1750A>C MANE Select	ENSP00000498074.1:p.Asn584His
ENST00000647981.1:n.435A>C
ENST00000650437.1:c.1241A>C
ENST00000360971.6:c.1750A>C	ENSP00000354238.2:p.Asn584His
ENST00000459624.1:n.794A>C
ENST00000513998.5:c.*587A>C	ENSP00000422424.1:n.*587A>C
NM_006208.2:c.1750A>C	NP_006199.2:p.Asn584His
XM_011535896.1:c.640A>C	XP_011534198.1:p.Asn214His
NM_006208.3:c.1750A>C MANE Select	NP_006199.2:p.Asn584His