Canonical Allele Identifier: CA427023734

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 509145
• ClinVar RCV Id: RCV000612026 ; RCV002529520
• dbSNP Id: rs867561704
• gnomAD v4: 2-73453904-C-T
• MyVariant Identifiers: chr2:g.73681031C>T (hg19) ; chr2:g.73453904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453904C>T , CM000664.2:g.73453904C>T	GRCh38
NC_000002.11:g.73681031C>T , CM000664.1:g.73681031C>T	GRCh37
NC_000002.10:g.73534539C>T	NCBI36
NG_011690.1:g.73152C>T , LRG_741:g.73152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.6996C>T	ENSP00000507671.1:p.Ser2332=
ENST00000682801.1:c.6996C>T	ENSP00000507862.1:p.Ser2332=
ENST00000682859.1:c.6996C>T	ENSP00000508222.1:p.Ser2332=
ENST00000683791.1:c.685+21613C>T
ENST00000684197.1:n.2346C>T
ENST00000684460.1:c.4448C>T
ENST00000684548.1:c.6996C>T	ENSP00000507421.1:p.Ser2332=
ENST00000684590.1:c.1494C>T	ENSP00000507376.1:p.Ser498=
ENST00000684656.1:c.4448C>T
ENST00000613296.6:c.7377C>T MANE Select	ENSP00000482968.1:p.Ser2459=
ENST00000651434.1:c.598C>T
ENST00000423048.5:c.2208C>T	ENSP00000399833.1:p.Ser736=
ENST00000484298.5:c.7251C>T	ENSP00000478155.1:p.Ser2417=
ENST00000613296.4:c.7377C>T	ENSP00000482968.1:p.Ser2459=
ENST00000614410.4:c.7377C>T	ENSP00000479094.1:p.Ser2459=
ENST00000620466.4:n.1180C>T
NM_015120.4:c.7380C>T , LRG_741t1:c.7380C>T	NP_055935.4:p.Ser2460=
NM_001378454.1:c.7377C>T MANE Select	NP_001365383.1:p.Ser2459=