Canonical Allele Identifier: CA347274099

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73491284C>T , CM000664.2:g.73491284C>T	GRCh38
NC_000002.11:g.73718411C>T , CM000664.1:g.73718411C>T	GRCh37
NC_000002.10:g.73571919C>T	NCBI36
NG_011690.1:g.110532C>T , LRG_741:g.110532C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9325C>T MANE Select	NP_001365383.1:p.Gln3109Ter
ENST00000613296.6:c.9325C>T MANE Select	ENSP00000482968.1:p.Gln3109Ter
NM_015120.4:c.9328C>T , LRG_741t1:c.9328C>T	NP_055935.4:p.Gln3110Ter
ENST00000423048.5:c.3030+1126C>T	ENSP00000399833.1:n.3030+1126C>T
ENST00000484298.5:c.9199C>T	ENSP00000478155.1:p.Gln3067Ter
ENST00000613296.4:c.9325C>T	ENSP00000482968.1:p.Gln3109Ter
ENST00000614410.4:c.9325C>T	ENSP00000479094.1:p.Gln3109Ter
ENST00000620466.4:n.3128C>T
ENST00000651434.1:c.896-28491C>T
ENST00000652487.1:c.422C>T
ENST00000682565.1:c.8944C>T	ENSP00000507671.1:p.Gln2982Ter
ENST00000682801.1:c.8944C>T	ENSP00000507862.1:p.Gln2982Ter
ENST00000682859.1:c.8944C>T	ENSP00000508222.1:p.Gln2982Ter
ENST00000683791.1:c.2336C>T
ENST00000684460.1:c.6396C>T
ENST00000684548.1:c.8944C>T	ENSP00000507421.1:p.Gln2982Ter
ENST00000684590.1:c.3391C>T	ENSP00000507376.1:p.Gln1131Ter
ENST00000684656.1:c.6396C>T