Canonical Allele Identifier: CA347285920

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572737-G-T
• MyVariant Identifiers: chr2:g.73799864G>T (hg19) ; chr2:g.73572737G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572737G>T , CM000664.2:g.73572737G>T	GRCh38
NC_000002.11:g.73799864G>T , CM000664.1:g.73799864G>T	GRCh37
NC_000002.10:g.73653372G>T	NCBI36
NG_011690.1:g.191985G>T , LRG_741:g.191985G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10479G>T	ENSP00000507671.1:p.Arg3493Ser
ENST00000682801.1:c.10479G>T	ENSP00000507862.1:p.Arg3493Ser
ENST00000682859.1:c.10479G>T	ENSP00000508222.1:p.Arg3493Ser
ENST00000683791.1:c.3565G>T
ENST00000684460.1:c.7760G>T
ENST00000684548.1:c.10479G>T	ENSP00000507421.1:p.Arg3493Ser
ENST00000684590.1:c.4926G>T	ENSP00000507376.1:p.Arg1642Ser
ENST00000684656.1:c.7805G>T
ENST00000613296.6:c.10860G>T MANE Select	ENSP00000482968.1:p.Arg3620Ser
ENST00000651057.1:c.1014G>T	ENSP00000498504.1:p.Arg338Ser
ENST00000651434.1:c.2216G>T
ENST00000651750.1:c.248G>T
ENST00000652487.1:c.1957G>T
ENST00000423048.5:c.4351G>T	ENSP00000399833.1:n.4351G>T
ENST00000484298.5:c.10734G>T	ENSP00000478155.1:p.Arg3578Ser
ENST00000613296.4:c.10860G>T	ENSP00000482968.1:p.Arg3620Ser
ENST00000614410.4:c.10860G>T	ENSP00000479094.1:p.Arg3620Ser
ENST00000620466.4:n.4663G>T
NM_015120.4:c.10863G>T , LRG_741t1:c.10863G>T	NP_055935.4:p.Arg3621Ser
NM_001378454.1:c.10860G>T MANE Select	NP_001365383.1:p.Arg3620Ser