Canonical Allele Identifier: CA347266856

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717088C>G (hg19) ; chr2:g.73489961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489961C>G , CM000664.2:g.73489961C>G	GRCh38
NC_000002.11:g.73717088C>G , CM000664.1:g.73717088C>G	GRCh37
NC_000002.10:g.73570596C>G	NCBI36
NG_011690.1:g.109209C>G , LRG_741:g.109209C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7621C>G	ENSP00000507671.1:p.Leu2541Val
ENST00000682801.1:c.7621C>G	ENSP00000507862.1:p.Leu2541Val
ENST00000682859.1:c.7621C>G	ENSP00000508222.1:p.Leu2541Val
ENST00000683791.1:c.1013C>G
ENST00000684460.1:c.5073C>G
ENST00000684548.1:c.7621C>G	ENSP00000507421.1:p.Leu2541Val
ENST00000684590.1:c.2068C>G	ENSP00000507376.1:p.Leu690Val
ENST00000684656.1:c.5073C>G
ENST00000613296.6:c.8002C>G MANE Select	ENSP00000482968.1:p.Leu2668Val
ENST00000651434.1:c.896-29814C>G
ENST00000423048.5:c.2833C>G	ENSP00000399833.1:p.Leu945Val
ENST00000484298.5:c.7876C>G	ENSP00000478155.1:p.Leu2626Val
ENST00000613296.4:c.8002C>G	ENSP00000482968.1:p.Leu2668Val
ENST00000614410.4:c.8002C>G	ENSP00000479094.1:p.Leu2668Val
ENST00000620466.4:n.1805C>G
NM_015120.4:c.8005C>G , LRG_741t1:c.8005C>G	NP_055935.4:p.Leu2669Val
NM_001378454.1:c.8002C>G MANE Select	NP_001365383.1:p.Leu2668Val