Canonical Allele Identifier: CA391298741

Gene: NIPA1

Linked Data

• MyVariant Identifiers: chr15:g.23086294G>C (hg19) ; chr15:g.22786774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.22786774C>G , CM000677.2:g.22786774C>G	GRCh38
NC_000015.9:g.23086294G>C , CM000677.1:g.23086294G>C	GRCh37
NC_000015.8:g.20637735G>C	NCBI36
NG_009056.1:g.5550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337435.9:c.118C>G MANE Select	ENSP00000337452.4:p.Leu40Val
ENST00000337435.8:c.118C>G	ENSP00000337452.4:p.Leu40Val
ENST00000437912.6:c.-48+12461C>G	ENSP00000393962.2:n.-48+12461C>G
ENST00000559448.5:c.8C>G
ENST00000560069.5:n.31+526C>G
ENST00000560105.1:n.17C>G
ENST00000561183.5:c.-48+526C>G	ENSP00000453722.1:n.-48+526C>G
NM_001142275.1:c.-48+526C>G	NP_001135747.1:n.-48+526C>G
NM_144599.4:c.118C>G	NP_653200.2:p.Leu40Val
NM_144599.5:c.118C>G MANE Select	NP_653200.2:p.Leu40Val