Canonical Allele Identifier: CA347283951

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2155464
• ClinVar RCV Id: RCV003072348
• MyVariant Identifiers: chr2:g.73799592C>G (hg19) ; chr2:g.73572465C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572465C>G , CM000664.2:g.73572465C>G	GRCh38
NC_000002.11:g.73799592C>G , CM000664.1:g.73799592C>G	GRCh37
NC_000002.10:g.73653100C>G	NCBI36
NG_011690.1:g.191713C>G , LRG_741:g.191713C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10207C>G	ENSP00000507671.1:p.Leu3403Val
ENST00000682801.1:c.10207C>G	ENSP00000507862.1:p.Leu3403Val
ENST00000682859.1:c.10207C>G	ENSP00000508222.1:p.Leu3403Val
ENST00000683791.1:c.3293C>G
ENST00000684460.1:c.7488C>G
ENST00000684548.1:c.10207C>G	ENSP00000507421.1:p.Leu3403Val
ENST00000684590.1:c.4654C>G	ENSP00000507376.1:p.Leu1552Val
ENST00000684656.1:c.7533C>G
ENST00000613296.6:c.10588C>G MANE Select	ENSP00000482968.1:p.Leu3530Val
ENST00000651057.1:c.742C>G	ENSP00000498504.1:p.Leu248Val
ENST00000651434.1:c.1944C>G
ENST00000652487.1:c.1685C>G
ENST00000423048.5:c.4079C>G	ENSP00000399833.1:n.4079C>G
ENST00000484298.5:c.10462C>G	ENSP00000478155.1:p.Leu3488Val
ENST00000613296.4:c.10588C>G	ENSP00000482968.1:p.Leu3530Val
ENST00000614410.4:c.10588C>G	ENSP00000479094.1:p.Leu3530Val
ENST00000620466.4:n.4391C>G
NM_015120.4:c.10591C>G , LRG_741t1:c.10591C>G	NP_055935.4:p.Leu3531Val
NM_001378454.1:c.10588C>G MANE Select	NP_001365383.1:p.Leu3530Val