Canonical Allele Identifier: CA1714342

Gene: ALMS1

Linked Data

• dbSNP Id: rs761864114
• ExAC: 2:73716846 T / A
• gnomAD v2: 2-73716846-T-A
• gnomAD v4: 2-73489719-T-A
• MyVariant Identifiers: chr2:g.73716846T>A (hg19) ; chr2:g.73489719T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489719T>A , CM000664.2:g.73489719T>A	GRCh38
NC_000002.11:g.73716846T>A , CM000664.1:g.73716846T>A	GRCh37
NC_000002.10:g.73570354T>A	NCBI36
NG_011690.1:g.108967T>A , LRG_741:g.108967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7379T>A	ENSP00000507671.1:p.Phe2460Tyr
ENST00000682801.1:c.7379T>A	ENSP00000507862.1:p.Phe2460Tyr
ENST00000682859.1:c.7379T>A	ENSP00000508222.1:p.Phe2460Tyr
ENST00000683791.1:c.771T>A
ENST00000684460.1:c.4831T>A
ENST00000684548.1:c.7379T>A	ENSP00000507421.1:p.Phe2460Tyr
ENST00000684590.1:c.1826T>A	ENSP00000507376.1:p.Phe609Tyr
ENST00000684656.1:c.4831T>A
ENST00000613296.6:c.7760T>A MANE Select	ENSP00000482968.1:p.Phe2587Tyr
ENST00000651434.1:c.896-30056T>A
ENST00000423048.5:c.2591T>A	ENSP00000399833.1:p.Phe864Tyr
ENST00000484298.5:c.7634T>A	ENSP00000478155.1:p.Phe2545Tyr
ENST00000613296.4:c.7760T>A	ENSP00000482968.1:p.Phe2587Tyr
ENST00000614410.4:c.7760T>A	ENSP00000479094.1:p.Phe2587Tyr
ENST00000620466.4:n.1563T>A
NM_015120.4:c.7763T>A , LRG_741t1:c.7763T>A	NP_055935.4:p.Phe2588Tyr
NM_001378454.1:c.7760T>A MANE Select	NP_001365383.1:p.Phe2587Tyr