Canonical Allele Identifier: CA1714732

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519908C>T , CM000664.2:g.73519908C>T	GRCh38
NC_000002.11:g.73747035C>T , CM000664.1:g.73747035C>T	GRCh37
NC_000002.10:g.73600543C>T	NCBI36
NG_011690.1:g.139156C>T , LRG_741:g.139156C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9673C>T MANE Select	NP_001365383.1:p.Arg3225Cys
ENST00000613296.6:c.9673C>T MANE Select	ENSP00000482968.1:p.Arg3225Cys
NM_015120.4:c.9676C>T , LRG_741t1:c.9676C>T	NP_055935.4:p.Arg3226Cys
ENST00000423048.5:c.3164C>T	ENSP00000399833.1:n.3164C>T
ENST00000484298.5:c.9547C>T	ENSP00000478155.1:p.Arg3183Cys
ENST00000613296.4:c.9673C>T	ENSP00000482968.1:p.Arg3225Cys
ENST00000614410.4:c.9673C>T	ENSP00000479094.1:p.Arg3225Cys
ENST00000620466.4:n.3476C>T
ENST00000651434.1:c.1029C>T
ENST00000652487.1:c.770C>T
ENST00000682565.1:c.9292C>T	ENSP00000507671.1:p.Arg3098Cys
ENST00000682801.1:c.9292C>T	ENSP00000507862.1:p.Arg3098Cys
ENST00000682859.1:c.9292C>T	ENSP00000508222.1:p.Arg3098Cys
ENST00000683791.1:c.2684C>T
ENST00000684460.1:c.6744C>T
ENST00000684548.1:c.9292C>T	ENSP00000507421.1:p.Arg3098Cys
ENST00000684590.1:c.3739C>T	ENSP00000507376.1:p.Arg1247Cys
ENST00000684656.1:c.6744C>T