Canonical Allele Identifier: CA1715010

Gene: ALMS1

Linked Data

• dbSNP Id: rs772624348
• ExAC: 2:73799484 C / G
• gnomAD v2: 2-73799484-C-G
• gnomAD v4: 2-73572357-C-G
• MyVariant Identifiers: chr2:g.73799484C>G (hg19) ; chr2:g.73572357C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572357C>G , CM000664.2:g.73572357C>G	GRCh38
NC_000002.11:g.73799484C>G , CM000664.1:g.73799484C>G	GRCh37
NC_000002.10:g.73652992C>G	NCBI36
NG_011690.1:g.191605C>G , LRG_741:g.191605C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10099C>G	ENSP00000507671.1:p.Gln3367Glu
ENST00000682801.1:c.10099C>G	ENSP00000507862.1:p.Gln3367Glu
ENST00000682859.1:c.10099C>G	ENSP00000508222.1:p.Gln3367Glu
ENST00000683791.1:c.3185C>G
ENST00000684460.1:c.7380C>G
ENST00000684548.1:c.10099C>G	ENSP00000507421.1:p.Gln3367Glu
ENST00000684590.1:c.4546C>G	ENSP00000507376.1:p.Gln1516Glu
ENST00000684656.1:c.7425C>G
ENST00000613296.6:c.10480C>G MANE Select	ENSP00000482968.1:p.Gln3494Glu
ENST00000651057.1:c.634C>G	ENSP00000498504.1:p.Gln212Glu
ENST00000651434.1:c.1836C>G
ENST00000652487.1:c.1577C>G
ENST00000423048.5:c.3971C>G	ENSP00000399833.1:n.3971C>G
ENST00000484298.5:c.10354C>G	ENSP00000478155.1:p.Gln3452Glu
ENST00000613296.4:c.10480C>G	ENSP00000482968.1:p.Gln3494Glu
ENST00000614410.4:c.10480C>G	ENSP00000479094.1:p.Gln3494Glu
ENST00000620466.4:n.4283C>G
NM_015120.4:c.10483C>G , LRG_741t1:c.10483C>G	NP_055935.4:p.Gln3495Glu
NM_001378454.1:c.10480C>G MANE Select	NP_001365383.1:p.Gln3494Glu