Canonical Allele Identifier: CA427024610

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1148173
• ClinVar RCV Id: RCV001487918
• dbSNP Id: rs1273406580
• gnomAD v4: 2-73572710-A-G
• MyVariant Identifiers: chr2:g.73799837A>G (hg19) ; chr2:g.73572710A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572710A>G , CM000664.2:g.73572710A>G	GRCh38
NC_000002.11:g.73799837A>G , CM000664.1:g.73799837A>G	GRCh37
NC_000002.10:g.73653345A>G	NCBI36
NG_011690.1:g.191958A>G , LRG_741:g.191958A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10452A>G	ENSP00000507671.1:p.Gln3484=
ENST00000682801.1:c.10452A>G	ENSP00000507862.1:p.Gln3484=
ENST00000682859.1:c.10452A>G	ENSP00000508222.1:p.Gln3484=
ENST00000683791.1:c.3538A>G
ENST00000684460.1:c.7733A>G
ENST00000684548.1:c.10452A>G	ENSP00000507421.1:p.Gln3484=
ENST00000684590.1:c.4899A>G	ENSP00000507376.1:p.Gln1633=
ENST00000684656.1:c.7778A>G
ENST00000613296.6:c.10833A>G MANE Select	ENSP00000482968.1:p.Gln3611=
ENST00000651057.1:c.987A>G	ENSP00000498504.1:p.Gln329=
ENST00000651434.1:c.2189A>G
ENST00000651750.1:c.221A>G
ENST00000652487.1:c.1930A>G
ENST00000423048.5:c.4324A>G	ENSP00000399833.1:n.4324A>G
ENST00000484298.5:c.10707A>G	ENSP00000478155.1:p.Gln3569=
ENST00000613296.4:c.10833A>G	ENSP00000482968.1:p.Gln3611=
ENST00000614410.4:c.10833A>G	ENSP00000479094.1:p.Gln3611=
ENST00000620466.4:n.4636A>G
NM_015120.4:c.10836A>G , LRG_741t1:c.10836A>G	NP_055935.4:p.Gln3612=
NM_001378454.1:c.10833A>G MANE Select	NP_001365383.1:p.Gln3611=