Canonical Allele Identifier: CA1715099

Gene: ALMS1

Linked Data

• dbSNP Id: rs768307694
• ExAC: 2:73800000 A / G
• gnomAD v2: 2-73800000-A-G
• gnomAD v4: 2-73572873-A-G
• MyVariant Identifiers: chr2:g.73800000A>G (hg19) ; chr2:g.73572873A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572873A>G , CM000664.2:g.73572873A>G	GRCh38
NC_000002.11:g.73800000A>G , CM000664.1:g.73800000A>G	GRCh37
NC_000002.10:g.73653508A>G	NCBI36
NG_011690.1:g.192121A>G , LRG_741:g.192121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10615A>G	ENSP00000507671.1:p.Arg3539Gly
ENST00000682801.1:c.10615A>G	ENSP00000507862.1:p.Arg3539Gly
ENST00000682859.1:c.10615A>G	ENSP00000508222.1:p.Arg3539Gly
ENST00000683791.1:c.3701A>G
ENST00000684460.1:c.7896A>G
ENST00000684548.1:c.10615A>G	ENSP00000507421.1:p.Arg3539Gly
ENST00000684590.1:c.5062A>G	ENSP00000507376.1:p.Arg1688Gly
ENST00000684656.1:c.7941A>G
ENST00000613296.6:c.10996A>G MANE Select	ENSP00000482968.1:p.Arg3666Gly
ENST00000651057.1:c.1150A>G	ENSP00000498504.1:p.Arg384Gly
ENST00000651434.1:c.2352A>G
ENST00000651750.1:c.384A>G
ENST00000652487.1:c.2093A>G
ENST00000423048.5:c.4487A>G	ENSP00000399833.1:n.4487A>G
ENST00000484298.5:c.10870A>G	ENSP00000478155.1:p.Arg3624Gly
ENST00000613296.4:c.10996A>G	ENSP00000482968.1:p.Arg3666Gly
ENST00000614410.4:c.10996A>G	ENSP00000479094.1:p.Arg3666Gly
ENST00000620466.4:n.4799A>G
NM_015120.4:c.10999A>G , LRG_741t1:c.10999A>G	NP_055935.4:p.Arg3667Gly
NM_001378454.1:c.10996A>G MANE Select	NP_001365383.1:p.Arg3666Gly