Canonical Allele Identifier: CA347266679

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73489931-A-G
• MyVariant Identifiers: chr2:g.73717058A>G (hg19) ; chr2:g.73489931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489931A>G , CM000664.2:g.73489931A>G	GRCh38
NC_000002.11:g.73717058A>G , CM000664.1:g.73717058A>G	GRCh37
NC_000002.10:g.73570566A>G	NCBI36
NG_011690.1:g.109179A>G , LRG_741:g.109179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7591A>G	ENSP00000507671.1:p.Ile2531Val
ENST00000682801.1:c.7591A>G	ENSP00000507862.1:p.Ile2531Val
ENST00000682859.1:c.7591A>G	ENSP00000508222.1:p.Ile2531Val
ENST00000683791.1:c.983A>G
ENST00000684460.1:c.5043A>G
ENST00000684548.1:c.7591A>G	ENSP00000507421.1:p.Ile2531Val
ENST00000684590.1:c.2038A>G	ENSP00000507376.1:p.Ile680Val
ENST00000684656.1:c.5043A>G
ENST00000613296.6:c.7972A>G MANE Select	ENSP00000482968.1:p.Ile2658Val
ENST00000651434.1:c.896-29844A>G
ENST00000423048.5:c.2803A>G	ENSP00000399833.1:p.Ile935Val
ENST00000484298.5:c.7846A>G	ENSP00000478155.1:p.Ile2616Val
ENST00000613296.4:c.7972A>G	ENSP00000482968.1:p.Ile2658Val
ENST00000614410.4:c.7972A>G	ENSP00000479094.1:p.Ile2658Val
ENST00000620466.4:n.1775A>G
NM_015120.4:c.7975A>G , LRG_741t1:c.7975A>G	NP_055935.4:p.Ile2659Val
NM_001378454.1:c.7972A>G MANE Select	NP_001365383.1:p.Ile2658Val