Canonical Allele Identifier: CA347283513

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572419-C-G
• MyVariant Identifiers: chr2:g.73799546C>G (hg19) ; chr2:g.73572419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572419C>G , CM000664.2:g.73572419C>G	GRCh38
NC_000002.11:g.73799546C>G , CM000664.1:g.73799546C>G	GRCh37
NC_000002.10:g.73653054C>G	NCBI36
NG_011690.1:g.191667C>G , LRG_741:g.191667C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10161C>G	ENSP00000507671.1:p.Phe3387Leu
ENST00000682801.1:c.10161C>G	ENSP00000507862.1:p.Phe3387Leu
ENST00000682859.1:c.10161C>G	ENSP00000508222.1:p.Phe3387Leu
ENST00000683791.1:c.3247C>G
ENST00000684460.1:c.7442C>G
ENST00000684548.1:c.10161C>G	ENSP00000507421.1:p.Phe3387Leu
ENST00000684590.1:c.4608C>G	ENSP00000507376.1:p.Phe1536Leu
ENST00000684656.1:c.7487C>G
ENST00000613296.6:c.10542C>G MANE Select	ENSP00000482968.1:p.Phe3514Leu
ENST00000651057.1:c.696C>G	ENSP00000498504.1:p.Phe232Leu
ENST00000651434.1:c.1898C>G
ENST00000652487.1:c.1639C>G
ENST00000423048.5:c.4033C>G	ENSP00000399833.1:n.4033C>G
ENST00000484298.5:c.10416C>G	ENSP00000478155.1:p.Phe3472Leu
ENST00000613296.4:c.10542C>G	ENSP00000482968.1:p.Phe3514Leu
ENST00000614410.4:c.10542C>G	ENSP00000479094.1:p.Phe3514Leu
ENST00000620466.4:n.4345C>G
NM_015120.4:c.10545C>G , LRG_741t1:c.10545C>G	NP_055935.4:p.Phe3515Leu
NM_001378454.1:c.10542C>G MANE Select	NP_001365383.1:p.Phe3514Leu