Canonical Allele Identifier: CA50378010

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1395288
• ClinVar RCV Id: RCV001885015
• dbSNP Id: rs956487104
• MyVariant Identifiers: chr2:g.73717175C>T (hg19) ; chr2:g.73490048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490048C>T , CM000664.2:g.73490048C>T	GRCh38
NC_000002.11:g.73717175C>T , CM000664.1:g.73717175C>T	GRCh37
NC_000002.10:g.73570683C>T	NCBI36
NG_011690.1:g.109296C>T , LRG_741:g.109296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7708C>T	ENSP00000507671.1:p.His2570Tyr
ENST00000682801.1:c.7708C>T	ENSP00000507862.1:p.His2570Tyr
ENST00000682859.1:c.7708C>T	ENSP00000508222.1:p.His2570Tyr
ENST00000683791.1:c.1100C>T
ENST00000684460.1:c.5160C>T
ENST00000684548.1:c.7708C>T	ENSP00000507421.1:p.His2570Tyr
ENST00000684590.1:c.2155C>T	ENSP00000507376.1:p.His719Tyr
ENST00000684656.1:c.5160C>T
ENST00000613296.6:c.8089C>T MANE Select	ENSP00000482968.1:p.His2697Tyr
ENST00000651434.1:c.896-29727C>T
ENST00000423048.5:c.2920C>T	ENSP00000399833.1:p.His974Tyr
ENST00000484298.5:c.7963C>T	ENSP00000478155.1:p.His2655Tyr
ENST00000613296.4:c.8089C>T	ENSP00000482968.1:p.His2697Tyr
ENST00000614410.4:c.8089C>T	ENSP00000479094.1:p.His2697Tyr
ENST00000620466.4:n.1892C>T
NM_015120.4:c.8092C>T , LRG_741t1:c.8092C>T	NP_055935.4:p.His2698Tyr
NM_001378454.1:c.8089C>T MANE Select	NP_001365383.1:p.His2697Tyr