Canonical Allele Identifier: CA347283148

Gene: ALMS1

Linked Data

• dbSNP Id: rs776784912
• gnomAD v2: 2-73799489-T-G
• gnomAD v4: 2-73572362-T-G
• MyVariant Identifiers: chr2:g.73799489T>G (hg19) ; chr2:g.73572362T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572362T>G , CM000664.2:g.73572362T>G	GRCh38
NC_000002.11:g.73799489T>G , CM000664.1:g.73799489T>G	GRCh37
NC_000002.10:g.73652997T>G	NCBI36
NG_011690.1:g.191610T>G , LRG_741:g.191610T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10104T>G	ENSP00000507671.1:p.Asp3368Glu
ENST00000682801.1:c.10104T>G	ENSP00000507862.1:p.Asp3368Glu
ENST00000682859.1:c.10104T>G	ENSP00000508222.1:p.Asp3368Glu
ENST00000683791.1:c.3190T>G
ENST00000684460.1:c.7385T>G
ENST00000684548.1:c.10104T>G	ENSP00000507421.1:p.Asp3368Glu
ENST00000684590.1:c.4551T>G	ENSP00000507376.1:p.Asp1517Glu
ENST00000684656.1:c.7430T>G
ENST00000613296.6:c.10485T>G MANE Select	ENSP00000482968.1:p.Asp3495Glu
ENST00000651057.1:c.639T>G	ENSP00000498504.1:p.Asp213Glu
ENST00000651434.1:c.1841T>G
ENST00000652487.1:c.1582T>G
ENST00000423048.5:c.3976T>G	ENSP00000399833.1:n.3976T>G
ENST00000484298.5:c.10359T>G	ENSP00000478155.1:p.Asp3453Glu
ENST00000613296.4:c.10485T>G	ENSP00000482968.1:p.Asp3495Glu
ENST00000614410.4:c.10485T>G	ENSP00000479094.1:p.Asp3495Glu
ENST00000620466.4:n.4288T>G
NM_015120.4:c.10488T>G , LRG_741t1:c.10488T>G	NP_055935.4:p.Asp3496Glu
NM_001378454.1:c.10485T>G MANE Select	NP_001365383.1:p.Asp3495Glu