Canonical Allele Identifier: CA347271114

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73603255C>T , CM000664.2:g.73603255C>T	GRCh38
NC_000002.11:g.73830382C>T , CM000664.1:g.73830382C>T	GRCh37
NC_000002.10:g.73683890C>T	NCBI36
NG_011690.1:g.222503C>T , LRG_741:g.222503C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12313C>T MANE Select	NP_001365383.1:p.Gln4105Ter
ENST00000613296.6:c.12313C>T MANE Select	ENSP00000482968.1:p.Gln4105Ter
NM_015120.4:c.12316C>T , LRG_741t1:c.12316C>T	NP_055935.4:p.Gln4106Ter
ENST00000464408.3:n.488C>T
ENST00000484298.5:c.12187C>T	ENSP00000478155.1:p.Gln4063Ter
ENST00000613296.4:c.12313C>T	ENSP00000482968.1:p.Gln4105Ter
ENST00000620466.4:n.6116C>T
ENST00000651057.1:c.2467C>T	ENSP00000498504.1:p.Gln823Ter
ENST00000651434.1:c.3669C>T
ENST00000651750.1:c.1459C>T
ENST00000652487.1:c.3484C>T
ENST00000682565.1:c.11932C>T	ENSP00000507671.1:p.Gln3978Ter
ENST00000682801.1:c.11365C>T	ENSP00000507862.1:p.Gln3789Ter
ENST00000682859.1:c.11932C>T	ENSP00000508222.1:p.Gln3978Ter
ENST00000683791.1:c.5018C>T
ENST00000684460.1:c.9213C>T
ENST00000684548.1:c.11932C>T	ENSP00000507421.1:p.Gln3978Ter
ENST00000684590.1:c.6379C>T	ENSP00000507376.1:p.Gln2127Ter
ENST00000684656.1:c.9397C>T