Canonical Allele Identifier: CA347284439

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799647T>G (hg19) ; chr2:g.73572520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572520T>G , CM000664.2:g.73572520T>G	GRCh38
NC_000002.11:g.73799647T>G , CM000664.1:g.73799647T>G	GRCh37
NC_000002.10:g.73653155T>G	NCBI36
NG_011690.1:g.191768T>G , LRG_741:g.191768T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10262T>G	ENSP00000507671.1:p.Leu3421Arg
ENST00000682801.1:c.10262T>G	ENSP00000507862.1:p.Leu3421Arg
ENST00000682859.1:c.10262T>G	ENSP00000508222.1:p.Leu3421Arg
ENST00000683791.1:c.3348T>G
ENST00000684460.1:c.7543T>G
ENST00000684548.1:c.10262T>G	ENSP00000507421.1:p.Leu3421Arg
ENST00000684590.1:c.4709T>G	ENSP00000507376.1:p.Leu1570Arg
ENST00000684656.1:c.7588T>G
ENST00000613296.6:c.10643T>G MANE Select	ENSP00000482968.1:p.Leu3548Arg
ENST00000651057.1:c.797T>G	ENSP00000498504.1:p.Leu266Arg
ENST00000651434.1:c.1999T>G
ENST00000651750.1:c.31T>G
ENST00000652487.1:c.1740T>G
ENST00000423048.5:c.4134T>G	ENSP00000399833.1:n.4134T>G
ENST00000484298.5:c.10517T>G	ENSP00000478155.1:p.Leu3506Arg
ENST00000613296.4:c.10643T>G	ENSP00000482968.1:p.Leu3548Arg
ENST00000614410.4:c.10643T>G	ENSP00000479094.1:p.Leu3548Arg
ENST00000620466.4:n.4446T>G
NM_015120.4:c.10646T>G , LRG_741t1:c.10646T>G	NP_055935.4:p.Leu3549Arg
NM_001378454.1:c.10643T>G MANE Select	NP_001365383.1:p.Leu3548Arg