Canonical Allele Identifier: CA347286600

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572855-G-A
• MyVariant Identifiers: chr2:g.73799982G>A (hg19) ; chr2:g.73572855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572855G>A , CM000664.2:g.73572855G>A	GRCh38
NC_000002.11:g.73799982G>A , CM000664.1:g.73799982G>A	GRCh37
NC_000002.10:g.73653490G>A	NCBI36
NG_011690.1:g.192103G>A , LRG_741:g.192103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10597G>A	ENSP00000507671.1:p.Val3533Met
ENST00000682801.1:c.10597G>A	ENSP00000507862.1:p.Val3533Met
ENST00000682859.1:c.10597G>A	ENSP00000508222.1:p.Val3533Met
ENST00000683791.1:c.3683G>A
ENST00000684460.1:c.7878G>A
ENST00000684548.1:c.10597G>A	ENSP00000507421.1:p.Val3533Met
ENST00000684590.1:c.5044G>A	ENSP00000507376.1:p.Val1682Met
ENST00000684656.1:c.7923G>A
ENST00000613296.6:c.10978G>A MANE Select	ENSP00000482968.1:p.Val3660Met
ENST00000651057.1:c.1132G>A	ENSP00000498504.1:p.Val378Met
ENST00000651434.1:c.2334G>A
ENST00000651750.1:c.366G>A
ENST00000652487.1:c.2075G>A
ENST00000423048.5:c.4469G>A	ENSP00000399833.1:n.4469G>A
ENST00000484298.5:c.10852G>A	ENSP00000478155.1:p.Val3618Met
ENST00000613296.4:c.10978G>A	ENSP00000482968.1:p.Val3660Met
ENST00000614410.4:c.10978G>A	ENSP00000479094.1:p.Val3660Met
ENST00000620466.4:n.4781G>A
NM_015120.4:c.10981G>A , LRG_741t1:c.10981G>A	NP_055935.4:p.Val3661Met
NM_001378454.1:c.10978G>A MANE Select	NP_001365383.1:p.Val3660Met