Canonical Allele Identifier: CA1715071

Gene: ALMS1

Linked Data

• dbSNP Id: rs780187704
• ExAC: 2:73799853 T / G
• gnomAD v2: 2-73799853-T-G
• gnomAD v3: 2-73572726-T-G
• gnomAD v4: 2-73572726-T-G
• MyVariant Identifiers: chr2:g.73799853T>G (hg19) ; chr2:g.73572726T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572726T>G , CM000664.2:g.73572726T>G	GRCh38
NC_000002.11:g.73799853T>G , CM000664.1:g.73799853T>G	GRCh37
NC_000002.10:g.73653361T>G	NCBI36
NG_011690.1:g.191974T>G , LRG_741:g.191974T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10468T>G	ENSP00000507671.1:p.Leu3490Val
ENST00000682801.1:c.10468T>G	ENSP00000507862.1:p.Leu3490Val
ENST00000682859.1:c.10468T>G	ENSP00000508222.1:p.Leu3490Val
ENST00000683791.1:c.3554T>G
ENST00000684460.1:c.7749T>G
ENST00000684548.1:c.10468T>G	ENSP00000507421.1:p.Leu3490Val
ENST00000684590.1:c.4915T>G	ENSP00000507376.1:p.Leu1639Val
ENST00000684656.1:c.7794T>G
ENST00000613296.6:c.10849T>G MANE Select	ENSP00000482968.1:p.Leu3617Val
ENST00000651057.1:c.1003T>G	ENSP00000498504.1:p.Leu335Val
ENST00000651434.1:c.2205T>G
ENST00000651750.1:c.237T>G
ENST00000652487.1:c.1946T>G
ENST00000423048.5:c.4340T>G	ENSP00000399833.1:n.4340T>G
ENST00000484298.5:c.10723T>G	ENSP00000478155.1:p.Leu3575Val
ENST00000613296.4:c.10849T>G	ENSP00000482968.1:p.Leu3617Val
ENST00000614410.4:c.10849T>G	ENSP00000479094.1:p.Leu3617Val
ENST00000620466.4:n.4652T>G
NM_015120.4:c.10852T>G , LRG_741t1:c.10852T>G	NP_055935.4:p.Leu3618Val
NM_001378454.1:c.10849T>G MANE Select	NP_001365383.1:p.Leu3617Val