Canonical Allele Identifier: CA347267269

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2192366
• ClinVar RCV Id: RCV002643715
• MyVariant Identifiers: chr2:g.73717154C>G (hg19) ; chr2:g.73490027C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490027C>G , CM000664.2:g.73490027C>G	GRCh38
NC_000002.11:g.73717154C>G , CM000664.1:g.73717154C>G	GRCh37
NC_000002.10:g.73570662C>G	NCBI36
NG_011690.1:g.109275C>G , LRG_741:g.109275C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7687C>G	ENSP00000507671.1:p.Pro2563Ala
ENST00000682801.1:c.7687C>G	ENSP00000507862.1:p.Pro2563Ala
ENST00000682859.1:c.7687C>G	ENSP00000508222.1:p.Pro2563Ala
ENST00000683791.1:c.1079C>G
ENST00000684460.1:c.5139C>G
ENST00000684548.1:c.7687C>G	ENSP00000507421.1:p.Pro2563Ala
ENST00000684590.1:c.2134C>G	ENSP00000507376.1:p.Pro712Ala
ENST00000684656.1:c.5139C>G
ENST00000613296.6:c.8068C>G MANE Select	ENSP00000482968.1:p.Pro2690Ala
ENST00000651434.1:c.896-29748C>G
ENST00000423048.5:c.2899C>G	ENSP00000399833.1:p.Pro967Ala
ENST00000484298.5:c.7942C>G	ENSP00000478155.1:p.Pro2648Ala
ENST00000613296.4:c.8068C>G	ENSP00000482968.1:p.Pro2690Ala
ENST00000614410.4:c.8068C>G	ENSP00000479094.1:p.Pro2690Ala
ENST00000620466.4:n.1871C>G
NM_015120.4:c.8071C>G , LRG_741t1:c.8071C>G	NP_055935.4:p.Pro2691Ala
NM_001378454.1:c.8068C>G MANE Select	NP_001365383.1:p.Pro2690Ala