Canonical Allele Identifier: CA347284953

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799707G>T (hg19) ; chr2:g.73572580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572580G>T , CM000664.2:g.73572580G>T	GRCh38
NC_000002.11:g.73799707G>T , CM000664.1:g.73799707G>T	GRCh37
NC_000002.10:g.73653215G>T	NCBI36
NG_011690.1:g.191828G>T , LRG_741:g.191828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10322G>T	ENSP00000507671.1:p.Arg3441Ile
ENST00000682801.1:c.10322G>T	ENSP00000507862.1:p.Arg3441Ile
ENST00000682859.1:c.10322G>T	ENSP00000508222.1:p.Arg3441Ile
ENST00000683791.1:c.3408G>T
ENST00000684460.1:c.7603G>T
ENST00000684548.1:c.10322G>T	ENSP00000507421.1:p.Arg3441Ile
ENST00000684590.1:c.4769G>T	ENSP00000507376.1:p.Arg1590Ile
ENST00000684656.1:c.7648G>T
ENST00000613296.6:c.10703G>T MANE Select	ENSP00000482968.1:p.Arg3568Ile
ENST00000651057.1:c.857G>T	ENSP00000498504.1:p.Arg286Ile
ENST00000651434.1:c.2059G>T
ENST00000651750.1:c.91G>T
ENST00000652487.1:c.1800G>T
ENST00000423048.5:c.4194G>T	ENSP00000399833.1:n.4194G>T
ENST00000484298.5:c.10577G>T	ENSP00000478155.1:p.Arg3526Ile
ENST00000613296.4:c.10703G>T	ENSP00000482968.1:p.Arg3568Ile
ENST00000614410.4:c.10703G>T	ENSP00000479094.1:p.Arg3568Ile
ENST00000620466.4:n.4506G>T
NM_015120.4:c.10706G>T , LRG_741t1:c.10706G>T	NP_055935.4:p.Arg3569Ile
NM_001378454.1:c.10703G>T MANE Select	NP_001365383.1:p.Arg3568Ile