Canonical Allele Identifier: CA1139767787

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.[23539813G>A;23539879G>A] , CM000680.2:g.[23539813G>A;23539879G>A]	GRCh38
NC_000018.9:g.[21119777G>A;21119843G>A] , CM000680.1:g.[21119777G>A;21119843G>A]	GRCh37
NC_000018.8:g.[19373775G>A;19373841G>A]	NCBI36
NG_012795.1:g.[51739C>T;51805C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269228.10:c.[2727C>T;2793C>T] MANE Select	ENSP00000269228.4:p.[Cys909=;Asn931=]
ENST00000269228.9:c.[2727C>T;2793C>T]	ENSP00000269228.4:p.[Cys909=;Asn931=]
ENST00000540608.5:n.[2641C>T;2707C>T]
ENST00000591051.1:c.[1805C>T;1871C>T]
ENST00000591075.1:n.[20C>T;86C>T]
NM_000271.4:c.[2727C>T;2793C>T]	NP_000262.2:p.[Cys909=;Asn931=]
XM_005258277.1:c.[2778C>T;2844C>T]	XP_005258334.1:p.[Cys926=;Asn948=]
XM_005258278.3:c.[2778C>T;2844C>T]	XP_005258335.1:p.[Cys926=;Asn948=]
XM_005258279.1:c.[2727C>T;2793C>T]	XP_005258336.1:p.[Cys909=;Asn931=]
XM_006722479.2:c.[2778C>T;2844C>T]	XP_006722542.1:p.[Cys926=;Asn948=]
XM_011526015.1:c.[2313C>T;2379C>T]	XP_011524317.1:p.[Cys771=;Asn793=]
XM_005258278.5:c.[2778C>T;2844C>T]	XP_005258335.1:p.[Cys926=;Asn948=]
XM_005258279.2:c.[2727C>T;2793C>T]	XP_005258336.1:p.[Cys909=;Asn931=]
XM_006722479.3:c.[2778C>T;2844C>T]	XP_006722542.1:p.[Cys926=;Asn948=]
XM_017025784.1:c.[2778C>T;2844C>T]	XP_016881273.1:p.[Cys926=;Asn948=]
XM_017025785.1:c.[2778C>T;2844C>T]	XP_016881274.1:p.[Cys926=;Asn948=]
XM_017025786.1:c.[2727C>T;2793C>T]	XP_016881275.1:p.[Cys909=;Asn931=]
XM_017025787.1:c.[2727C>T;2793C>T]	XP_016881276.1:p.[Cys909=;Asn931=]
NM_000271.5:c.[2727C>T;2793C>T] MANE Select	NP_000262.2:p.[Cys909=;Asn931=]