Canonical Allele Identifier: CA347283983

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1359416
• ClinVar RCV Id: RCV001904408
• dbSNP Id: rs2104104344
• MyVariant Identifiers: chr2:g.73799596C>G (hg19) ; chr2:g.73572469C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572469C>G , CM000664.2:g.73572469C>G	GRCh38
NC_000002.11:g.73799596C>G , CM000664.1:g.73799596C>G	GRCh37
NC_000002.10:g.73653104C>G	NCBI36
NG_011690.1:g.191717C>G , LRG_741:g.191717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10211C>G	ENSP00000507671.1:p.Pro3404Arg
ENST00000682801.1:c.10211C>G	ENSP00000507862.1:p.Pro3404Arg
ENST00000682859.1:c.10211C>G	ENSP00000508222.1:p.Pro3404Arg
ENST00000683791.1:c.3297C>G
ENST00000684460.1:c.7492C>G
ENST00000684548.1:c.10211C>G	ENSP00000507421.1:p.Pro3404Arg
ENST00000684590.1:c.4658C>G	ENSP00000507376.1:p.Pro1553Arg
ENST00000684656.1:c.7537C>G
ENST00000613296.6:c.10592C>G MANE Select	ENSP00000482968.1:p.Pro3531Arg
ENST00000651057.1:c.746C>G	ENSP00000498504.1:p.Pro249Arg
ENST00000651434.1:c.1948C>G
ENST00000652487.1:c.1689C>G
ENST00000423048.5:c.4083C>G	ENSP00000399833.1:n.4083C>G
ENST00000484298.5:c.10466C>G	ENSP00000478155.1:p.Pro3489Arg
ENST00000613296.4:c.10592C>G	ENSP00000482968.1:p.Pro3531Arg
ENST00000614410.4:c.10592C>G	ENSP00000479094.1:p.Pro3531Arg
ENST00000620466.4:n.4395C>G
NM_015120.4:c.10595C>G , LRG_741t1:c.10595C>G	NP_055935.4:p.Pro3532Arg
NM_001378454.1:c.10592C>G MANE Select	NP_001365383.1:p.Pro3531Arg