Canonical Allele Identifier: CA347268201

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73602287C>T , CM000664.2:g.73602287C>T	GRCh38
NC_000002.11:g.73829414C>T , CM000664.1:g.73829414C>T	GRCh37
NC_000002.10:g.73682922C>T	NCBI36
NG_011690.1:g.221535C>T , LRG_741:g.221535C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12217C>T MANE Select	NP_001365383.1:p.Gln4073Ter
ENST00000613296.6:c.12217C>T MANE Select	ENSP00000482968.1:p.Gln4073Ter
NM_015120.4:c.12220C>T , LRG_741t1:c.12220C>T	NP_055935.4:p.Gln4074Ter
ENST00000464408.3:n.392C>T
ENST00000484298.5:c.12091C>T	ENSP00000478155.1:p.Gln4031Ter
ENST00000613296.4:c.12217C>T	ENSP00000482968.1:p.Gln4073Ter
ENST00000620466.4:n.6020C>T
ENST00000651057.1:c.2371C>T	ENSP00000498504.1:p.Gln791Ter
ENST00000651434.1:c.3573C>T
ENST00000651750.1:c.1363C>T
ENST00000652487.1:c.3388C>T
ENST00000682565.1:c.11836C>T	ENSP00000507671.1:p.Gln3946Ter
ENST00000682801.1:c.11269C>T	ENSP00000507862.1:p.Gln3757Ter
ENST00000682859.1:c.11836C>T	ENSP00000508222.1:p.Gln3946Ter
ENST00000683791.1:c.4922C>T
ENST00000684460.1:c.9117C>T
ENST00000684548.1:c.11836C>T	ENSP00000507421.1:p.Gln3946Ter
ENST00000684590.1:c.6283C>T	ENSP00000507376.1:p.Gln2095Ter
ENST00000684656.1:c.9301C>T