Canonical Allele Identifier: CA297075883

Gene: NPC1

Linked Data

• dbSNP Id: rs938435511
• gnomAD v4: 18-23533291-G-C
• MyVariant Identifiers: chr18:g.21113255G>C (hg19) ; chr18:g.23533291G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23533291G>C , CM000680.2:g.23533291G>C	GRCh38
NC_000018.9:g.21113255G>C , CM000680.1:g.21113255G>C	GRCh37
NC_000018.8:g.19367253G>C	NCBI36
NG_012795.1:g.58327C>G
NG_033119.1:g.34822G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3754+64C>G MANE Select	ENSP00000269228.4:n.3754+64C>G
ENST00000269228.9:c.3754+64C>G	ENSP00000269228.4:n.3754+64C>G
ENST00000586150.5:c.509+64C>G
ENST00000587163.1:n.342C>G
ENST00000588867.1:n.1437+64C>G
ENST00000590723.5:c.163+64C>G	ENSP00000464755.1:n.163+64C>G
ENST00000591051.1:c.2832+64C>G
ENST00000591107.6:c.431+64C>G
ENST00000593280.2:c.86+64C>G
NM_000271.4:c.3754+64C>G	NP_000262.2:n.3754+64C>G
XM_005258277.1:c.3805+64C>G	XP_005258334.1:n.3805+64C>G
XM_005258278.3:c.3805+64C>G	XP_005258335.1:n.3805+64C>G
XM_005258279.1:c.3754+64C>G	XP_005258336.1:n.3754+64C>G
XM_006722479.2:c.3805+64C>G	XP_006722542.1:n.3805+64C>G
XM_011526015.1:c.3340+64C>G	XP_011524317.1:n.3340+64C>G
XM_005258278.5:c.3805+64C>G	XP_005258335.1:n.3805+64C>G
XM_005258279.2:c.3754+64C>G	XP_005258336.1:n.3754+64C>G
XM_006722479.3:c.3805+64C>G	XP_006722542.1:n.3805+64C>G
XM_017025784.1:c.3805+64C>G	XP_016881273.1:n.3805+64C>G
XM_017025785.1:c.3805+64C>G	XP_016881274.1:n.3805+64C>G
XM_017025786.1:c.3754+64C>G	XP_016881275.1:n.3754+64C>G
XM_017025787.1:c.3754+64C>G	XP_016881276.1:n.3754+64C>G
NM_000271.5:c.3754+64C>G MANE Select	NP_000262.2:n.3754+64C>G