Canonical Allele Identifier: CA777718457

Gene: NPC1

Linked Data

• dbSNP Id: rs1236713828
• gnomAD v3: 18-23556169-C-CA
• gnomAD v4: 18-23556169-C-CA
• MyVariant Identifiers: chr18:g.21136133_21136134insA (hg19) ; chr18:g.23556169_23556170insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23556170dup , CM000680.2:g.23556170dup	GRCh38
NC_000018.9:g.21136134dup , CM000680.1:g.21136134dup	GRCh37
NC_000018.8:g.19390132dup	NCBI36
NG_012795.1:g.35448dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269228.10:c.1326+73dup MANE Select	ENSP00000269228.4:n.1326+73dup
ENST00000269228.9:c.1326+73dup	ENSP00000269228.4:n.1326+73dup
ENST00000540608.5:n.1240+73dup
ENST00000591051.1:c.608+73dup
NM_000271.4:c.1326+73dup	NP_000262.2:n.1326+73dup
XM_005258277.1:c.1377+73dup	XP_005258334.1:n.1377+73dup
XM_005258278.3:c.1377+73dup	XP_005258335.1:n.1377+73dup
XM_005258279.1:c.1326+73dup	XP_005258336.1:n.1326+73dup
XM_006722479.2:c.1377+73dup	XP_006722542.1:n.1377+73dup
XM_011526015.1:c.912+73dup	XP_011524317.1:n.912+73dup
XM_005258278.5:c.1377+73dup	XP_005258335.1:n.1377+73dup
XM_005258279.2:c.1326+73dup	XP_005258336.1:n.1326+73dup
XM_006722479.3:c.1377+73dup	XP_006722542.1:n.1377+73dup
XM_017025784.1:c.1377+73dup	XP_016881273.1:n.1377+73dup
XM_017025785.1:c.1377+73dup	XP_016881274.1:n.1377+73dup
XM_017025786.1:c.1326+73dup	XP_016881275.1:n.1326+73dup
XM_017025787.1:c.1326+73dup	XP_016881276.1:n.1326+73dup
NM_000271.5:c.1326+73dup MANE Select	NP_000262.2:n.1326+73dup