Canonical Allele Identifier: CA401774771

Gene: NPC1

Linked Data

• gnomAD v4: 18-23551654-G-C
• MyVariant Identifiers: chr18:g.21131618G>C (hg19) ; chr18:g.23551654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23551654G>C , CM000680.2:g.23551654G>C	GRCh38
NC_000018.9:g.21131618G>C , CM000680.1:g.21131618G>C	GRCh37
NC_000018.8:g.19385616G>C	NCBI36
NG_012795.1:g.39964C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1627C>G MANE Select	ENSP00000269228.4:p.Pro543Ala
ENST00000269228.9:c.1627C>G	ENSP00000269228.4:p.Pro543Ala
ENST00000540608.5:n.1541C>G
ENST00000590301.1:n.302C>G
ENST00000591051.1:c.835+3104C>G
NM_000271.4:c.1627C>G	NP_000262.2:p.Pro543Ala
XM_005258277.1:c.1678C>G	XP_005258334.1:p.Pro560Ala
XM_005258278.3:c.1678C>G	XP_005258335.1:p.Pro560Ala
XM_005258279.1:c.1627C>G	XP_005258336.1:p.Pro543Ala
XM_006722479.2:c.1678C>G	XP_006722542.1:p.Pro560Ala
XM_011526015.1:c.1213C>G	XP_011524317.1:p.Pro405Ala
XM_005258278.5:c.1678C>G	XP_005258335.1:p.Pro560Ala
XM_005258279.2:c.1627C>G	XP_005258336.1:p.Pro543Ala
XM_006722479.3:c.1678C>G	XP_006722542.1:p.Pro560Ala
XM_017025784.1:c.1678C>G	XP_016881273.1:p.Pro560Ala
XM_017025785.1:c.1678C>G	XP_016881274.1:p.Pro560Ala
XM_017025786.1:c.1627C>G	XP_016881275.1:p.Pro543Ala
XM_017025787.1:c.1627C>G	XP_016881276.1:p.Pro543Ala
NM_000271.5:c.1627C>G MANE Select	NP_000262.2:p.Pro543Ala