Canonical Allele Identifier: CA365661314

Gene: ENPP1

Linked Data

• MyVariant Identifiers: chr6:g.132211618A>C (hg19) ; chr6:g.131890478A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131890478A>C , CM000668.2:g.131890478A>C	GRCh38
NC_000006.11:g.132211618A>C , CM000668.1:g.132211618A>C	GRCh37
NC_000006.10:g.132253311A>C	NCBI36
NG_008206.1:g.87463A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684674.1:n.1176A>C
ENST00000647893.1:c.2745A>C MANE Select	ENSP00000498074.1:p.Lys915Asn
ENST00000360971.6:c.2745A>C	ENSP00000354238.2:p.Lys915Asn
ENST00000513998.5:c.*1582A>C	ENSP00000422424.1:n.*1582A>C
NM_006208.2:c.2745A>C	NP_006199.2:p.Lys915Asn
XM_011535896.1:c.1635A>C	XP_011534198.1:p.Lys545Asn
NM_006208.3:c.2745A>C MANE Select	NP_006199.2:p.Lys915Asn