Canonical Allele Identifier: CA347283434

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799535T>A (hg19) ; chr2:g.73572408T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572408T>A , CM000664.2:g.73572408T>A	GRCh38
NC_000002.11:g.73799535T>A , CM000664.1:g.73799535T>A	GRCh37
NC_000002.10:g.73653043T>A	NCBI36
NG_011690.1:g.191656T>A , LRG_741:g.191656T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10150T>A	ENSP00000507671.1:p.Trp3384Arg
ENST00000682801.1:c.10150T>A	ENSP00000507862.1:p.Trp3384Arg
ENST00000682859.1:c.10150T>A	ENSP00000508222.1:p.Trp3384Arg
ENST00000683791.1:c.3236T>A
ENST00000684460.1:c.7431T>A
ENST00000684548.1:c.10150T>A	ENSP00000507421.1:p.Trp3384Arg
ENST00000684590.1:c.4597T>A	ENSP00000507376.1:p.Trp1533Arg
ENST00000684656.1:c.7476T>A
ENST00000613296.6:c.10531T>A MANE Select	ENSP00000482968.1:p.Trp3511Arg
ENST00000651057.1:c.685T>A	ENSP00000498504.1:p.Trp229Arg
ENST00000651434.1:c.1887T>A
ENST00000652487.1:c.1628T>A
ENST00000423048.5:c.4022T>A	ENSP00000399833.1:n.4022T>A
ENST00000484298.5:c.10405T>A	ENSP00000478155.1:p.Trp3469Arg
ENST00000613296.4:c.10531T>A	ENSP00000482968.1:p.Trp3511Arg
ENST00000614410.4:c.10531T>A	ENSP00000479094.1:p.Trp3511Arg
ENST00000620466.4:n.4334T>A
NM_015120.4:c.10534T>A , LRG_741t1:c.10534T>A	NP_055935.4:p.Trp3512Arg
NM_001378454.1:c.10531T>A MANE Select	NP_001365383.1:p.Trp3511Arg