Canonical Allele Identifier: CA365651933

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198156C>T (hg19) ; chr6:g.131877016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877016C>T , CM000668.2:g.131877016C>T	GRCh38
NC_000006.11:g.132198156C>T , CM000668.1:g.132198156C>T	GRCh37
NC_000006.10:g.132239849C>T	NCBI36
NG_008206.1:g.74001C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.620C>T
ENST00000684536.1:n.246C>T
ENST00000647893.1:c.1748C>T MANE Select	ENSP00000498074.1:p.Pro583Leu
ENST00000647981.1:n.433C>T
ENST00000650437.1:c.1239C>T
ENST00000360971.6:c.1748C>T	ENSP00000354238.2:p.Pro583Leu
ENST00000459624.1:n.792C>T
ENST00000513998.5:c.*585C>T	ENSP00000422424.1:n.*585C>T
NM_006208.2:c.1748C>T	NP_006199.2:p.Pro583Leu
XM_011535896.1:c.638C>T	XP_011534198.1:p.Pro213Leu
NM_006208.3:c.1748C>T MANE Select	NP_006199.2:p.Pro583Leu