Canonical Allele Identifier: CA347267128

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828543T>A (hg19) ; chr2:g.73601416T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601416T>A , CM000664.2:g.73601416T>A	GRCh38
NC_000002.11:g.73828543T>A , CM000664.1:g.73828543T>A	GRCh37
NC_000002.10:g.73682051T>A	NCBI36
NG_011690.1:g.220664T>A , LRG_741:g.220664T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11713T>A	ENSP00000507671.1:p.Phe3905Ile
ENST00000682801.1:c.11167-769T>A	ENSP00000507862.1:n.11167-769T>A
ENST00000682859.1:c.11713T>A	ENSP00000508222.1:p.Phe3905Ile
ENST00000683791.1:c.4799T>A
ENST00000684460.1:c.8994T>A
ENST00000684548.1:c.11713T>A	ENSP00000507421.1:p.Phe3905Ile
ENST00000684590.1:c.6160T>A	ENSP00000507376.1:p.Phe2054Ile
ENST00000684656.1:c.9178T>A
ENST00000613296.6:c.12094T>A MANE Select	ENSP00000482968.1:p.Phe4032Ile
ENST00000651057.1:c.2248T>A	ENSP00000498504.1:p.Phe750Ile
ENST00000651434.1:c.3450T>A
ENST00000651750.1:c.1260+535T>A
ENST00000652487.1:c.3265T>A
ENST00000464408.3:n.269T>A
ENST00000484298.5:c.11968T>A	ENSP00000478155.1:p.Phe3990Ile
ENST00000613296.4:c.12094T>A	ENSP00000482968.1:p.Phe4032Ile
ENST00000620466.4:n.5897T>A
NM_015120.4:c.12097T>A , LRG_741t1:c.12097T>A	NP_055935.4:p.Phe4033Ile
NM_001378454.1:c.12094T>A MANE Select	NP_001365383.1:p.Phe4032Ile