Canonical Allele Identifier: CA347286507

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799967A>T (hg19) ; chr2:g.73572840A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572840A>T , CM000664.2:g.73572840A>T	GRCh38
NC_000002.11:g.73799967A>T , CM000664.1:g.73799967A>T	GRCh37
NC_000002.10:g.73653475A>T	NCBI36
NG_011690.1:g.192088A>T , LRG_741:g.192088A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10582A>T	ENSP00000507671.1:p.Arg3528Ter
ENST00000682801.1:c.10582A>T	ENSP00000507862.1:p.Arg3528Ter
ENST00000682859.1:c.10582A>T	ENSP00000508222.1:p.Arg3528Ter
ENST00000683791.1:c.3668A>T
ENST00000684460.1:c.7863A>T
ENST00000684548.1:c.10582A>T	ENSP00000507421.1:p.Arg3528Ter
ENST00000684590.1:c.5029A>T	ENSP00000507376.1:p.Arg1677Ter
ENST00000684656.1:c.7908A>T
ENST00000613296.6:c.10963A>T MANE Select	ENSP00000482968.1:p.Arg3655Ter
ENST00000651057.1:c.1117A>T	ENSP00000498504.1:p.Arg373Ter
ENST00000651434.1:c.2319A>T
ENST00000651750.1:c.351A>T
ENST00000652487.1:c.2060A>T
ENST00000423048.5:c.4454A>T	ENSP00000399833.1:n.4454A>T
ENST00000484298.5:c.10837A>T	ENSP00000478155.1:p.Arg3613Ter
ENST00000613296.4:c.10963A>T	ENSP00000482968.1:p.Arg3655Ter
ENST00000614410.4:c.10963A>T	ENSP00000479094.1:p.Arg3655Ter
ENST00000620466.4:n.4766A>T
NM_015120.4:c.10966A>T , LRG_741t1:c.10966A>T	NP_055935.4:p.Arg3656Ter
NM_001378454.1:c.10963A>T MANE Select	NP_001365383.1:p.Arg3655Ter