Canonical Allele Identifier: CA16043892
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374777
ClinVar RCV Id: RCV000415919
dbSNP Id: rs1057519242
MyVariant Identifiers: chr18:g.21120470C>A (hg19) chr18:g.23540506C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23540506C>A , CM000680.2:g.23540506C>A GRCh38
NC_000018.9:g.21120470C>A , CM000680.1:g.21120470C>A GRCh37
NC_000018.8:g.19374468C>A NCBI36
NG_012795.1:g.51112G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000269228.10:c.2546G>T MANE Select ENSP00000269228.4:p.Ser849Ile
ENST00000269228.9:c.2546G>T ENSP00000269228.4:p.Ser849Ile
ENST00000540608.5:n.2460G>T
ENST00000586718.1:n.337G>T
ENST00000591051.1:c.1624G>T
NM_000271.4:c.2546G>T NP_000262.2:p.Ser849Ile
XM_005258277.1:c.2597G>T XP_005258334.1:p.Ser866Ile
XM_005258278.3:c.2597G>T XP_005258335.1:p.Ser866Ile
XM_005258279.1:c.2546G>T XP_005258336.1:p.Ser849Ile
XM_006722479.2:c.2597G>T XP_006722542.1:p.Ser866Ile
XM_011526015.1:c.2132G>T XP_011524317.1:p.Ser711Ile
XM_005258278.5:c.2597G>T XP_005258335.1:p.Ser866Ile
XM_005258279.2:c.2546G>T XP_005258336.1:p.Ser849Ile
XM_006722479.3:c.2597G>T XP_006722542.1:p.Ser866Ile
XM_017025784.1:c.2597G>T XP_016881273.1:p.Ser866Ile
XM_017025785.1:c.2597G>T XP_016881274.1:p.Ser866Ile
XM_017025786.1:c.2546G>T XP_016881275.1:p.Ser849Ile
XM_017025787.1:c.2546G>T XP_016881276.1:p.Ser849Ile
NM_000271.5:c.2546G>T MANE Select NP_000262.2:p.Ser849Ile
Search 100 bp 5'
Search 100 bp 3'