Canonical Allele Identifier: CA347268182

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73602285T>A , CM000664.2:g.73602285T>A	GRCh38
NC_000002.11:g.73829412T>A , CM000664.1:g.73829412T>A	GRCh37
NC_000002.10:g.73682920T>A	NCBI36
NG_011690.1:g.221533T>A , LRG_741:g.221533T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12215T>A MANE Select	NP_001365383.1:p.Leu4072Ter
ENST00000613296.6:c.12215T>A MANE Select	ENSP00000482968.1:p.Leu4072Ter
NM_015120.4:c.12218T>A , LRG_741t1:c.12218T>A	NP_055935.4:p.Leu4073Ter
ENST00000464408.3:n.390T>A
ENST00000484298.5:c.12089T>A	ENSP00000478155.1:p.Leu4030Ter
ENST00000613296.4:c.12215T>A	ENSP00000482968.1:p.Leu4072Ter
ENST00000620466.4:n.6018T>A
ENST00000651057.1:c.2369T>A	ENSP00000498504.1:p.Leu790Ter
ENST00000651434.1:c.3571T>A
ENST00000651750.1:c.1361T>A
ENST00000652487.1:c.3386T>A
ENST00000682565.1:c.11834T>A	ENSP00000507671.1:p.Leu3945Ter
ENST00000682801.1:c.11267T>A	ENSP00000507862.1:p.Leu3756Ter
ENST00000682859.1:c.11834T>A	ENSP00000508222.1:p.Leu3945Ter
ENST00000683791.1:c.4920T>A
ENST00000684460.1:c.9115T>A
ENST00000684548.1:c.11834T>A	ENSP00000507421.1:p.Leu3945Ter
ENST00000684590.1:c.6281T>A	ENSP00000507376.1:p.Leu2094Ter
ENST00000684656.1:c.9299T>A