Canonical Allele Identifier: CA365651901

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132198152G>C (hg19) ; chr6:g.131877012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131877012G>C , CM000668.2:g.131877012G>C	GRCh38
NC_000006.11:g.132198152G>C , CM000668.1:g.132198152G>C	GRCh37
NC_000006.10:g.132239845G>C	NCBI36
NG_008206.1:g.73997G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683687.1:n.616G>C
ENST00000684536.1:n.242G>C
ENST00000647893.1:c.1744G>C MANE Select	ENSP00000498074.1:p.Ala582Pro
ENST00000647981.1:n.429G>C
ENST00000650437.1:c.1235G>C
ENST00000360971.6:c.1744G>C	ENSP00000354238.2:p.Ala582Pro
ENST00000459624.1:n.788G>C
ENST00000513998.5:c.*581G>C	ENSP00000422424.1:n.*581G>C
NM_006208.2:c.1744G>C	NP_006199.2:p.Ala582Pro
XM_011535896.1:c.634G>C	XP_011534198.1:p.Ala212Pro
NM_006208.3:c.1744G>C MANE Select	NP_006199.2:p.Ala582Pro