Canonical Allele Identifier: CA347268056

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73602263G>T , CM000664.2:g.73602263G>T	GRCh38
NC_000002.11:g.73829390G>T , CM000664.1:g.73829390G>T	GRCh37
NC_000002.10:g.73682898G>T	NCBI36
NG_011690.1:g.221511G>T , LRG_741:g.221511G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12193G>T MANE Select	NP_001365383.1:p.Glu4065Ter
ENST00000613296.6:c.12193G>T MANE Select	ENSP00000482968.1:p.Glu4065Ter
NM_015120.4:c.12196G>T , LRG_741t1:c.12196G>T	NP_055935.4:p.Glu4066Ter
ENST00000464408.3:n.368G>T
ENST00000484298.5:c.12067G>T	ENSP00000478155.1:p.Glu4023Ter
ENST00000613296.4:c.12193G>T	ENSP00000482968.1:p.Glu4065Ter
ENST00000620466.4:n.5996G>T
ENST00000651057.1:c.2347G>T	ENSP00000498504.1:p.Glu783Ter
ENST00000651434.1:c.3549G>T
ENST00000651750.1:c.1339G>T
ENST00000652487.1:c.3364G>T
ENST00000682565.1:c.11812G>T	ENSP00000507671.1:p.Glu3938Ter
ENST00000682801.1:c.11245G>T	ENSP00000507862.1:p.Glu3749Ter
ENST00000682859.1:c.11812G>T	ENSP00000508222.1:p.Glu3938Ter
ENST00000683791.1:c.4898G>T
ENST00000684460.1:c.9093G>T
ENST00000684548.1:c.11812G>T	ENSP00000507421.1:p.Glu3938Ter
ENST00000684590.1:c.6259G>T	ENSP00000507376.1:p.Glu2087Ter
ENST00000684656.1:c.9277G>T