Canonical Allele Identifier: CA347263932

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73716811T>G (hg19) ; chr2:g.73489684T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489684T>G , CM000664.2:g.73489684T>G	GRCh38
NC_000002.11:g.73716811T>G , CM000664.1:g.73716811T>G	GRCh37
NC_000002.10:g.73570319T>G	NCBI36
NG_011690.1:g.108932T>G , LRG_741:g.108932T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7344T>G	ENSP00000507671.1:p.Ser2448Arg
ENST00000682801.1:c.7344T>G	ENSP00000507862.1:p.Ser2448Arg
ENST00000682859.1:c.7344T>G	ENSP00000508222.1:p.Ser2448Arg
ENST00000683791.1:c.736T>G
ENST00000684460.1:c.4796T>G
ENST00000684548.1:c.7344T>G	ENSP00000507421.1:p.Ser2448Arg
ENST00000684590.1:c.1791T>G	ENSP00000507376.1:p.Ser597Arg
ENST00000684656.1:c.4796T>G
ENST00000613296.6:c.7725T>G MANE Select	ENSP00000482968.1:p.Ser2575Arg
ENST00000651434.1:c.896-30091T>G
ENST00000423048.5:c.2556T>G	ENSP00000399833.1:p.Ser852Arg
ENST00000484298.5:c.7599T>G	ENSP00000478155.1:p.Ser2533Arg
ENST00000613296.4:c.7725T>G	ENSP00000482968.1:p.Ser2575Arg
ENST00000614410.4:c.7725T>G	ENSP00000479094.1:p.Ser2575Arg
ENST00000620466.4:n.1528T>G
NM_015120.4:c.7728T>G , LRG_741t1:c.7728T>G	NP_055935.4:p.Ser2576Arg
NM_001378454.1:c.7725T>G MANE Select	NP_001365383.1:p.Ser2575Arg