Canonical Allele Identifier: CA347287019

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800037G>T (hg19) ; chr2:g.73572910G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572910G>T , CM000664.2:g.73572910G>T	GRCh38
NC_000002.11:g.73800037G>T , CM000664.1:g.73800037G>T	GRCh37
NC_000002.10:g.73653545G>T	NCBI36
NG_011690.1:g.192158G>T , LRG_741:g.192158G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10652G>T	ENSP00000507671.1:p.Arg3551Leu
ENST00000682801.1:c.10652G>T	ENSP00000507862.1:p.Arg3551Leu
ENST00000682859.1:c.10652G>T	ENSP00000508222.1:p.Arg3551Leu
ENST00000683791.1:c.3738G>T
ENST00000684460.1:c.7933G>T
ENST00000684548.1:c.10652G>T	ENSP00000507421.1:p.Arg3551Leu
ENST00000684590.1:c.5099G>T	ENSP00000507376.1:p.Arg1700Leu
ENST00000684656.1:c.7978G>T
ENST00000613296.6:c.11033G>T MANE Select	ENSP00000482968.1:p.Arg3678Leu
ENST00000651057.1:c.1187G>T	ENSP00000498504.1:p.Arg396Leu
ENST00000651434.1:c.2389G>T
ENST00000651750.1:c.421G>T
ENST00000652487.1:c.2130G>T
ENST00000423048.5:c.4524G>T	ENSP00000399833.1:n.4524G>T
ENST00000484298.5:c.10907G>T	ENSP00000478155.1:p.Arg3636Leu
ENST00000613296.4:c.11033G>T	ENSP00000482968.1:p.Arg3678Leu
ENST00000614410.4:c.11033G>T	ENSP00000479094.1:p.Arg3678Leu
ENST00000620466.4:n.4836G>T
NM_015120.4:c.11036G>T , LRG_741t1:c.11036G>T	NP_055935.4:p.Arg3679Leu
NM_001378454.1:c.11033G>T MANE Select	NP_001365383.1:p.Arg3678Leu