Canonical Allele Identifier: CA347266825

Gene: ALMS1

Linked Data

• dbSNP Id: rs1308393126
• gnomAD v2: 2-73717082-A-G
• gnomAD v4: 2-73489955-A-G
• MyVariant Identifiers: chr2:g.73717082A>G (hg19) ; chr2:g.73489955A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489955A>G , CM000664.2:g.73489955A>G	GRCh38
NC_000002.11:g.73717082A>G , CM000664.1:g.73717082A>G	GRCh37
NC_000002.10:g.73570590A>G	NCBI36
NG_011690.1:g.109203A>G , LRG_741:g.109203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7615A>G	ENSP00000507671.1:p.Lys2539Glu
ENST00000682801.1:c.7615A>G	ENSP00000507862.1:p.Lys2539Glu
ENST00000682859.1:c.7615A>G	ENSP00000508222.1:p.Lys2539Glu
ENST00000683791.1:c.1007A>G
ENST00000684460.1:c.5067A>G
ENST00000684548.1:c.7615A>G	ENSP00000507421.1:p.Lys2539Glu
ENST00000684590.1:c.2062A>G	ENSP00000507376.1:p.Lys688Glu
ENST00000684656.1:c.5067A>G
ENST00000613296.6:c.7996A>G MANE Select	ENSP00000482968.1:p.Lys2666Glu
ENST00000651434.1:c.896-29820A>G
ENST00000423048.5:c.2827A>G	ENSP00000399833.1:p.Lys943Glu
ENST00000484298.5:c.7870A>G	ENSP00000478155.1:p.Lys2624Glu
ENST00000613296.4:c.7996A>G	ENSP00000482968.1:p.Lys2666Glu
ENST00000614410.4:c.7996A>G	ENSP00000479094.1:p.Lys2666Glu
ENST00000620466.4:n.1799A>G
NM_015120.4:c.7999A>G , LRG_741t1:c.7999A>G	NP_055935.4:p.Lys2667Glu
NM_001378454.1:c.7996A>G MANE Select	NP_001365383.1:p.Lys2666Glu