Canonical Allele Identifier: CA347286858

Gene: ALMS1

Linked Data

• dbSNP Id: rs1674969714
• gnomAD v3: 2-73572888-A-T
• gnomAD v4: 2-73572888-A-T
• MyVariant Identifiers: chr2:g.73800015A>T (hg19) ; chr2:g.73572888A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572888A>T , CM000664.2:g.73572888A>T	GRCh38
NC_000002.11:g.73800015A>T , CM000664.1:g.73800015A>T	GRCh37
NC_000002.10:g.73653523A>T	NCBI36
NG_011690.1:g.192136A>T , LRG_741:g.192136A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10630A>T	ENSP00000507671.1:p.Asn3544Tyr
ENST00000682801.1:c.10630A>T	ENSP00000507862.1:p.Asn3544Tyr
ENST00000682859.1:c.10630A>T	ENSP00000508222.1:p.Asn3544Tyr
ENST00000683791.1:c.3716A>T
ENST00000684460.1:c.7911A>T
ENST00000684548.1:c.10630A>T	ENSP00000507421.1:p.Asn3544Tyr
ENST00000684590.1:c.5077A>T	ENSP00000507376.1:p.Asn1693Tyr
ENST00000684656.1:c.7956A>T
ENST00000613296.6:c.11011A>T MANE Select	ENSP00000482968.1:p.Asn3671Tyr
ENST00000651057.1:c.1165A>T	ENSP00000498504.1:p.Asn389Tyr
ENST00000651434.1:c.2367A>T
ENST00000651750.1:c.399A>T
ENST00000652487.1:c.2108A>T
ENST00000423048.5:c.4502A>T	ENSP00000399833.1:n.4502A>T
ENST00000484298.5:c.10885A>T	ENSP00000478155.1:p.Asn3629Tyr
ENST00000613296.4:c.11011A>T	ENSP00000482968.1:p.Asn3671Tyr
ENST00000614410.4:c.11011A>T	ENSP00000479094.1:p.Asn3671Tyr
ENST00000620466.4:n.4814A>T
NM_015120.4:c.11014A>T , LRG_741t1:c.11014A>T	NP_055935.4:p.Asn3672Tyr
NM_001378454.1:c.11011A>T MANE Select	NP_001365383.1:p.Asn3671Tyr