Canonical Allele Identifier: CA401781259

Gene: NPC1

Linked Data

• MyVariant Identifiers: chr18:g.21140352C>A (hg19) ; chr18:g.23560388C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23560388C>A , CM000680.2:g.23560388C>A	GRCh38
NC_000018.9:g.21140352C>A , CM000680.1:g.21140352C>A	GRCh37
NC_000018.8:g.19394350C>A	NCBI36
NG_012795.1:g.31230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.724G>T MANE Select	ENSP00000269228.4:p.Asp242Tyr
ENST00000269228.9:c.724G>T	ENSP00000269228.4:p.Asp242Tyr
ENST00000540608.5:n.638G>T
NM_000271.4:c.724G>T	NP_000262.2:p.Asp242Tyr
XM_005258277.1:c.724G>T	XP_005258334.1:p.Asp242Tyr
XM_005258278.3:c.724G>T	XP_005258335.1:p.Asp242Tyr
XM_005258279.1:c.724G>T	XP_005258336.1:p.Asp242Tyr
XM_006722479.2:c.724G>T	XP_006722542.1:p.Asp242Tyr
XM_011526015.1:c.259G>T	XP_011524317.1:p.Asp87Tyr
XM_005258278.5:c.724G>T	XP_005258335.1:p.Asp242Tyr
XM_005258279.2:c.724G>T	XP_005258336.1:p.Asp242Tyr
XM_006722479.3:c.724G>T	XP_006722542.1:p.Asp242Tyr
XM_017025784.1:c.724G>T	XP_016881273.1:p.Asp242Tyr
XM_017025785.1:c.724G>T	XP_016881274.1:p.Asp242Tyr
XM_017025786.1:c.724G>T	XP_016881275.1:p.Asp242Tyr
XM_017025787.1:c.724G>T	XP_016881276.1:p.Asp242Tyr
NM_000271.5:c.724G>T MANE Select	NP_000262.2:p.Asp242Tyr