Canonical Allele Identifier: CA50377445

Gene: ALMS1

Linked Data

• dbSNP Id: rs893014088
• gnomAD v2: 2-73716860-T-G
• gnomAD v3: 2-73489733-T-G
• gnomAD v4: 2-73489733-T-G
• MyVariant Identifiers: chr2:g.73716860T>G (hg19) ; chr2:g.73489733T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489733T>G , CM000664.2:g.73489733T>G	GRCh38
NC_000002.11:g.73716860T>G , CM000664.1:g.73716860T>G	GRCh37
NC_000002.10:g.73570368T>G	NCBI36
NG_011690.1:g.108981T>G , LRG_741:g.108981T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7393T>G	ENSP00000507671.1:p.Ser2465Ala
ENST00000682801.1:c.7393T>G	ENSP00000507862.1:p.Ser2465Ala
ENST00000682859.1:c.7393T>G	ENSP00000508222.1:p.Ser2465Ala
ENST00000683791.1:c.785T>G
ENST00000684460.1:c.4845T>G
ENST00000684548.1:c.7393T>G	ENSP00000507421.1:p.Ser2465Ala
ENST00000684590.1:c.1840T>G	ENSP00000507376.1:p.Ser614Ala
ENST00000684656.1:c.4845T>G
ENST00000613296.6:c.7774T>G MANE Select	ENSP00000482968.1:p.Ser2592Ala
ENST00000651434.1:c.896-30042T>G
ENST00000423048.5:c.2605T>G	ENSP00000399833.1:p.Ser869Ala
ENST00000484298.5:c.7648T>G	ENSP00000478155.1:p.Ser2550Ala
ENST00000613296.4:c.7774T>G	ENSP00000482968.1:p.Ser2592Ala
ENST00000614410.4:c.7774T>G	ENSP00000479094.1:p.Ser2592Ala
ENST00000620466.4:n.1577T>G
NM_015120.4:c.7777T>G , LRG_741t1:c.7777T>G	NP_055935.4:p.Ser2593Ala
NM_001378454.1:c.7774T>G MANE Select	NP_001365383.1:p.Ser2592Ala