Canonical Allele Identifier: CA1715034

Gene: ALMS1

Linked Data

• dbSNP Id: rs769907792
• ExAC: 2:73799607 A / T
• gnomAD v2: 2-73799607-A-T
• gnomAD v4: 2-73572480-A-T
• MyVariant Identifiers: chr2:g.73799607A>T (hg19) ; chr2:g.73572480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572480A>T , CM000664.2:g.73572480A>T	GRCh38
NC_000002.11:g.73799607A>T , CM000664.1:g.73799607A>T	GRCh37
NC_000002.10:g.73653115A>T	NCBI36
NG_011690.1:g.191728A>T , LRG_741:g.191728A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10222A>T	ENSP00000507671.1:p.Met3408Leu
ENST00000682801.1:c.10222A>T	ENSP00000507862.1:p.Met3408Leu
ENST00000682859.1:c.10222A>T	ENSP00000508222.1:p.Met3408Leu
ENST00000683791.1:c.3308A>T
ENST00000684460.1:c.7503A>T
ENST00000684548.1:c.10222A>T	ENSP00000507421.1:p.Met3408Leu
ENST00000684590.1:c.4669A>T	ENSP00000507376.1:p.Met1557Leu
ENST00000684656.1:c.7548A>T
ENST00000613296.6:c.10603A>T MANE Select	ENSP00000482968.1:p.Met3535Leu
ENST00000651057.1:c.757A>T	ENSP00000498504.1:p.Met253Leu
ENST00000651434.1:c.1959A>T
ENST00000652487.1:c.1700A>T
ENST00000423048.5:c.4094A>T	ENSP00000399833.1:n.4094A>T
ENST00000484298.5:c.10477A>T	ENSP00000478155.1:p.Met3493Leu
ENST00000613296.4:c.10603A>T	ENSP00000482968.1:p.Met3535Leu
ENST00000614410.4:c.10603A>T	ENSP00000479094.1:p.Met3535Leu
ENST00000620466.4:n.4406A>T
NM_015120.4:c.10606A>T , LRG_741t1:c.10606A>T	NP_055935.4:p.Met3536Leu
NM_001378454.1:c.10603A>T MANE Select	NP_001365383.1:p.Met3535Leu