Canonical Allele Identifier: CA347267883

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490175-G-A
• MyVariant Identifiers: chr2:g.73717302G>A (hg19) ; chr2:g.73490175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490175G>A , CM000664.2:g.73490175G>A	GRCh38
NC_000002.11:g.73717302G>A , CM000664.1:g.73717302G>A	GRCh37
NC_000002.10:g.73570810G>A	NCBI36
NG_011690.1:g.109423G>A , LRG_741:g.109423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7835G>A	ENSP00000507671.1:p.Gly2612Asp
ENST00000682801.1:c.7835G>A	ENSP00000507862.1:p.Gly2612Asp
ENST00000682859.1:c.7835G>A	ENSP00000508222.1:p.Gly2612Asp
ENST00000683791.1:c.1227G>A
ENST00000684460.1:c.5287G>A
ENST00000684548.1:c.7835G>A	ENSP00000507421.1:p.Gly2612Asp
ENST00000684590.1:c.2282G>A	ENSP00000507376.1:p.Gly761Asp
ENST00000684656.1:c.5287G>A
ENST00000613296.6:c.8216G>A MANE Select	ENSP00000482968.1:p.Gly2739Asp
ENST00000651434.1:c.896-29600G>A
ENST00000423048.5:c.3030+17G>A	ENSP00000399833.1:n.3030+17G>A
ENST00000484298.5:c.8090G>A	ENSP00000478155.1:p.Gly2697Asp
ENST00000613296.4:c.8216G>A	ENSP00000482968.1:p.Gly2739Asp
ENST00000614410.4:c.8216G>A	ENSP00000479094.1:p.Gly2739Asp
ENST00000620466.4:n.2019G>A
NM_015120.4:c.8219G>A , LRG_741t1:c.8219G>A	NP_055935.4:p.Gly2740Asp
NM_001378454.1:c.8216G>A MANE Select	NP_001365383.1:p.Gly2739Asp