Canonical Allele Identifier: CA1715530

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73603272C>G , CM000664.2:g.73603272C>G	GRCh38
NC_000002.11:g.73830399C>G , CM000664.1:g.73830399C>G	GRCh37
NC_000002.10:g.73683907C>G	NCBI36
NG_011690.1:g.222520C>G , LRG_741:g.222520C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12330C>G MANE Select	NP_001365383.1:p.Ile4110Met
ENST00000613296.6:c.12330C>G MANE Select	ENSP00000482968.1:p.Ile4110Met
NM_015120.4:c.12333C>G , LRG_741t1:c.12333C>G	NP_055935.4:p.Ile4111Met
ENST00000464408.3:n.505C>G
ENST00000484298.5:c.12204C>G	ENSP00000478155.1:p.Ile4068Met
ENST00000613296.4:c.12330C>G	ENSP00000482968.1:p.Ile4110Met
ENST00000620466.4:n.6133C>G
ENST00000651057.1:c.2484C>G	ENSP00000498504.1:p.Ile828Met
ENST00000651434.1:c.3686C>G
ENST00000651750.1:c.1476C>G
ENST00000652487.1:c.3501C>G
ENST00000682565.1:c.11949C>G	ENSP00000507671.1:p.Ile3983Met
ENST00000682801.1:c.11382C>G	ENSP00000507862.1:p.Ile3794Met
ENST00000682859.1:c.11949C>G	ENSP00000508222.1:p.Ile3983Met
ENST00000683791.1:c.5035C>G
ENST00000684460.1:c.9230C>G
ENST00000684548.1:c.11949C>G	ENSP00000507421.1:p.Ile3983Met
ENST00000684590.1:c.6396C>G	ENSP00000507376.1:p.Ile2132Met
ENST00000684656.1:c.9414C>G