Canonical Allele Identifier: CA390531520

Gene: NPC2

Linked Data

• MyVariant Identifiers: chr14:g.74947404C>A (hg19) ; chr14:g.74480701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74480701C>A , CM000676.2:g.74480701C>A	GRCh38
NC_000014.8:g.74947404C>A , CM000676.1:g.74947404C>A	GRCh37
NC_000014.7:g.74017157C>A	NCBI36
NG_007117.1:g.17681G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555619.6:c.441+1G>T MANE Select	ENSP00000451112.2:n.441+1G>T
ENST00000238633.6:c.432+10G>T	ENSP00000238633.2:n.432+10G>T
ENST00000434013.6:c.441+1G>T	ENSP00000412103.2:n.441+1G>T
ENST00000541064.5:c.364-413G>T	ENSP00000442488.1:n.364-413G>T
ENST00000553490.5:c.442G>T	ENSP00000451180.1:p.Val148Leu
ENST00000554482.1:c.236+1G>T	ENSP00000451314.1:n.236+1G>T
ENST00000555619.5:c.441+1G>T	ENSP00000451112.1:n.441+1G>T
ENST00000556009.5:c.506+1G>T
ENST00000557510.5:c.442G>T	ENSP00000451206.1:p.Val148Leu
NM_006432.3:c.441+1G>T	NP_006423.1:n.441+1G>T
NM_001363688.1:c.442G>T	NP_001350617.1:p.Val148Leu
NM_006432.4:c.441+1G>T	NP_006423.1:n.441+1G>T
NM_001375440.1:c.364-413G>T	NP_001362369.1:n.364-413G>T
NM_006432.5:c.441+1G>T MANE Select	NP_006423.1:n.441+1G>T