Canonical Allele Identifier: CA347267339

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490039-G-A
• MyVariant Identifiers: chr2:g.73717166G>A (hg19) ; chr2:g.73490039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490039G>A , CM000664.2:g.73490039G>A	GRCh38
NC_000002.11:g.73717166G>A , CM000664.1:g.73717166G>A	GRCh37
NC_000002.10:g.73570674G>A	NCBI36
NG_011690.1:g.109287G>A , LRG_741:g.109287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7699G>A	ENSP00000507671.1:p.Val2567Met
ENST00000682801.1:c.7699G>A	ENSP00000507862.1:p.Val2567Met
ENST00000682859.1:c.7699G>A	ENSP00000508222.1:p.Val2567Met
ENST00000683791.1:c.1091G>A
ENST00000684460.1:c.5151G>A
ENST00000684548.1:c.7699G>A	ENSP00000507421.1:p.Val2567Met
ENST00000684590.1:c.2146G>A	ENSP00000507376.1:p.Val716Met
ENST00000684656.1:c.5151G>A
ENST00000613296.6:c.8080G>A MANE Select	ENSP00000482968.1:p.Val2694Met
ENST00000651434.1:c.896-29736G>A
ENST00000423048.5:c.2911G>A	ENSP00000399833.1:p.Val971Met
ENST00000484298.5:c.7954G>A	ENSP00000478155.1:p.Val2652Met
ENST00000613296.4:c.8080G>A	ENSP00000482968.1:p.Val2694Met
ENST00000614410.4:c.8080G>A	ENSP00000479094.1:p.Val2694Met
ENST00000620466.4:n.1883G>A
NM_015120.4:c.8083G>A , LRG_741t1:c.8083G>A	NP_055935.4:p.Val2695Met
NM_001378454.1:c.8080G>A MANE Select	NP_001365383.1:p.Val2694Met