Canonical Allele Identifier: CA347284419

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1490102
• ClinVar RCV Id: RCV001978489 ; RCV004045312
• dbSNP Id: rs893243465
• gnomAD v4: 2-73572518-C-G
• MyVariant Identifiers: chr2:g.73799645C>G (hg19) ; chr2:g.73572518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572518C>G , CM000664.2:g.73572518C>G	GRCh38
NC_000002.11:g.73799645C>G , CM000664.1:g.73799645C>G	GRCh37
NC_000002.10:g.73653153C>G	NCBI36
NG_011690.1:g.191766C>G , LRG_741:g.191766C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10260C>G	ENSP00000507671.1:p.Ser3420Arg
ENST00000682801.1:c.10260C>G	ENSP00000507862.1:p.Ser3420Arg
ENST00000682859.1:c.10260C>G	ENSP00000508222.1:p.Ser3420Arg
ENST00000683791.1:c.3346C>G
ENST00000684460.1:c.7541C>G
ENST00000684548.1:c.10260C>G	ENSP00000507421.1:p.Ser3420Arg
ENST00000684590.1:c.4707C>G	ENSP00000507376.1:p.Ser1569Arg
ENST00000684656.1:c.7586C>G
ENST00000613296.6:c.10641C>G MANE Select	ENSP00000482968.1:p.Ser3547Arg
ENST00000651057.1:c.795C>G	ENSP00000498504.1:p.Ser265Arg
ENST00000651434.1:c.1997C>G
ENST00000651750.1:c.29C>G
ENST00000652487.1:c.1738C>G
ENST00000423048.5:c.4132C>G	ENSP00000399833.1:n.4132C>G
ENST00000484298.5:c.10515C>G	ENSP00000478155.1:p.Ser3505Arg
ENST00000613296.4:c.10641C>G	ENSP00000482968.1:p.Ser3547Arg
ENST00000614410.4:c.10641C>G	ENSP00000479094.1:p.Ser3547Arg
ENST00000620466.4:n.4444C>G
NM_015120.4:c.10644C>G , LRG_741t1:c.10644C>G	NP_055935.4:p.Ser3548Arg
NM_001378454.1:c.10641C>G MANE Select	NP_001365383.1:p.Ser3547Arg