Canonical Allele Identifier: CA365661648

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132211647A>T (hg19) ; chr6:g.131890507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131890507A>T , CM000668.2:g.131890507A>T	GRCh38
NC_000006.11:g.132211647A>T , CM000668.1:g.132211647A>T	GRCh37
NC_000006.10:g.132253340A>T	NCBI36
NG_008206.1:g.87492A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684674.1:n.1205A>T
ENST00000647893.1:c.2774A>T MANE Select	ENSP00000498074.1:p.Asp925Val
ENST00000360971.6:c.2774A>T	ENSP00000354238.2:p.Asp925Val
ENST00000513998.5:c.*1611A>T	ENSP00000422424.1:n.*1611A>T
NM_006208.2:c.2774A>T	NP_006199.2:p.Asp925Val
XM_011535896.1:c.1664A>T	XP_011534198.1:p.Asp555Val
NM_006208.3:c.2774A>T MANE Select	NP_006199.2:p.Asp925Val