Canonical Allele Identifier: CA777715390

Gene: NPC1

Linked Data

• dbSNP Id: rs1405105831
• gnomAD v3: 18-23535023-G-A
• gnomAD v4: 18-23535023-G-A
• MyVariant Identifiers: chr18:g.21114987G>A (hg19) ; chr18:g.23535023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23535023G>A , CM000680.2:g.23535023G>A	GRCh38
NC_000018.9:g.21114987G>A , CM000680.1:g.21114987G>A	GRCh37
NC_000018.8:g.19368985G>A	NCBI36
NG_012795.1:g.56595C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.3477+446C>T MANE Select	ENSP00000269228.4:n.3477+446C>T
ENST00000269228.9:c.3477+446C>T	ENSP00000269228.4:n.3477+446C>T
ENST00000586150.5:c.232+446C>T
ENST00000588867.1:n.232+446C>T
ENST00000591051.1:c.2555+446C>T
ENST00000591107.6:c.154+446C>T
NM_000271.4:c.3477+446C>T	NP_000262.2:n.3477+446C>T
XM_005258277.1:c.3528+446C>T	XP_005258334.1:n.3528+446C>T
XM_005258278.3:c.3528+446C>T	XP_005258335.1:n.3528+446C>T
XM_005258279.1:c.3477+446C>T	XP_005258336.1:n.3477+446C>T
XM_006722479.2:c.3528+446C>T	XP_006722542.1:n.3528+446C>T
XM_011526015.1:c.3063+446C>T	XP_011524317.1:n.3063+446C>T
XM_005258278.5:c.3528+446C>T	XP_005258335.1:n.3528+446C>T
XM_005258279.2:c.3477+446C>T	XP_005258336.1:n.3477+446C>T
XM_006722479.3:c.3528+446C>T	XP_006722542.1:n.3528+446C>T
XM_017025784.1:c.3528+446C>T	XP_016881273.1:n.3528+446C>T
XM_017025785.1:c.3528+446C>T	XP_016881274.1:n.3528+446C>T
XM_017025786.1:c.3477+446C>T	XP_016881275.1:n.3477+446C>T
XM_017025787.1:c.3477+446C>T	XP_016881276.1:n.3477+446C>T
NM_000271.5:c.3477+446C>T MANE Select	NP_000262.2:n.3477+446C>T