Canonical Allele Identifier: CA1714355

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 373269
• ClinVar RCV Id: RCV000412739 ; RCV000860665 ; RCV001729572 ; RCV002411280
• dbSNP Id: rs140223281
• ExAC: 2:73716906 C / G
• gnomAD v2: 2-73716906-C-G
• gnomAD v3: 2-73489779-C-G
• gnomAD v4: 2-73489779-C-G
• MyVariant Identifiers: chr2:g.73716906C>G (hg19) ; chr2:g.73489779C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489779C>G , CM000664.2:g.73489779C>G	GRCh38
NC_000002.11:g.73716906C>G , CM000664.1:g.73716906C>G	GRCh37
NC_000002.10:g.73570414C>G	NCBI36
NG_011690.1:g.109027C>G , LRG_741:g.109027C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7439C>G	ENSP00000507671.1:p.Ala2480Gly
ENST00000682801.1:c.7439C>G	ENSP00000507862.1:p.Ala2480Gly
ENST00000682859.1:c.7439C>G	ENSP00000508222.1:p.Ala2480Gly
ENST00000683791.1:c.831C>G
ENST00000684460.1:c.4891C>G
ENST00000684548.1:c.7439C>G	ENSP00000507421.1:p.Ala2480Gly
ENST00000684590.1:c.1886C>G	ENSP00000507376.1:p.Ala629Gly
ENST00000684656.1:c.4891C>G
ENST00000613296.6:c.7820C>G MANE Select	ENSP00000482968.1:p.Ala2607Gly
ENST00000651434.1:c.896-29996C>G
ENST00000423048.5:c.2651C>G	ENSP00000399833.1:p.Ala884Gly
ENST00000484298.5:c.7694C>G	ENSP00000478155.1:p.Ala2565Gly
ENST00000613296.4:c.7820C>G	ENSP00000482968.1:p.Ala2607Gly
ENST00000614410.4:c.7820C>G	ENSP00000479094.1:p.Ala2607Gly
ENST00000620466.4:n.1623C>G
NM_015120.4:c.7823C>G , LRG_741t1:c.7823C>G	NP_055935.4:p.Ala2608Gly
NM_001378454.1:c.7820C>G MANE Select	NP_001365383.1:p.Ala2607Gly