Canonical Allele Identifier: CA347285118

Gene: ALMS1

Linked Data

• dbSNP Id: rs1186194641
• gnomAD v2: 2-73799730-C-T
• MyVariant Identifiers: chr2:g.73799730C>T (hg19) ; chr2:g.73572603C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572603C>T , CM000664.2:g.73572603C>T	GRCh38
NC_000002.11:g.73799730C>T , CM000664.1:g.73799730C>T	GRCh37
NC_000002.10:g.73653238C>T	NCBI36
NG_011690.1:g.191851C>T , LRG_741:g.191851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10345C>T	ENSP00000507671.1:p.Gln3449Ter
ENST00000682801.1:c.10345C>T	ENSP00000507862.1:p.Gln3449Ter
ENST00000682859.1:c.10345C>T	ENSP00000508222.1:p.Gln3449Ter
ENST00000683791.1:c.3431C>T
ENST00000684460.1:c.7626C>T
ENST00000684548.1:c.10345C>T	ENSP00000507421.1:p.Gln3449Ter
ENST00000684590.1:c.4792C>T	ENSP00000507376.1:p.Gln1598Ter
ENST00000684656.1:c.7671C>T
ENST00000613296.6:c.10726C>T MANE Select	ENSP00000482968.1:p.Gln3576Ter
ENST00000651057.1:c.880C>T	ENSP00000498504.1:p.Gln294Ter
ENST00000651434.1:c.2082C>T
ENST00000651750.1:c.114C>T
ENST00000652487.1:c.1823C>T
ENST00000423048.5:c.4217C>T	ENSP00000399833.1:n.4217C>T
ENST00000484298.5:c.10600C>T	ENSP00000478155.1:p.Gln3534Ter
ENST00000613296.4:c.10726C>T	ENSP00000482968.1:p.Gln3576Ter
ENST00000614410.4:c.10726C>T	ENSP00000479094.1:p.Gln3576Ter
ENST00000620466.4:n.4529C>T
NM_015120.4:c.10729C>T , LRG_741t1:c.10729C>T	NP_055935.4:p.Gln3577Ter
NM_001378454.1:c.10726C>T MANE Select	NP_001365383.1:p.Gln3576Ter