Canonical Allele Identifier: CA347285428

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799782A>T (hg19) ; chr2:g.73572655A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572655A>T , CM000664.2:g.73572655A>T	GRCh38
NC_000002.11:g.73799782A>T , CM000664.1:g.73799782A>T	GRCh37
NC_000002.10:g.73653290A>T	NCBI36
NG_011690.1:g.191903A>T , LRG_741:g.191903A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10397A>T	ENSP00000507671.1:p.Gln3466Leu
ENST00000682801.1:c.10397A>T	ENSP00000507862.1:p.Gln3466Leu
ENST00000682859.1:c.10397A>T	ENSP00000508222.1:p.Gln3466Leu
ENST00000683791.1:c.3483A>T
ENST00000684460.1:c.7678A>T
ENST00000684548.1:c.10397A>T	ENSP00000507421.1:p.Gln3466Leu
ENST00000684590.1:c.4844A>T	ENSP00000507376.1:p.Gln1615Leu
ENST00000684656.1:c.7723A>T
ENST00000613296.6:c.10778A>T MANE Select	ENSP00000482968.1:p.Gln3593Leu
ENST00000651057.1:c.932A>T	ENSP00000498504.1:p.Gln311Leu
ENST00000651434.1:c.2134A>T
ENST00000651750.1:c.166A>T
ENST00000652487.1:c.1875A>T
ENST00000423048.5:c.4269A>T	ENSP00000399833.1:n.4269A>T
ENST00000484298.5:c.10652A>T	ENSP00000478155.1:p.Gln3551Leu
ENST00000613296.4:c.10778A>T	ENSP00000482968.1:p.Gln3593Leu
ENST00000614410.4:c.10778A>T	ENSP00000479094.1:p.Gln3593Leu
ENST00000620466.4:n.4581A>T
NM_015120.4:c.10781A>T , LRG_741t1:c.10781A>T	NP_055935.4:p.Gln3594Leu
NM_001378454.1:c.10778A>T MANE Select	NP_001365383.1:p.Gln3593Leu