Canonical Allele Identifier: CA347284264

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572501-T-G
• MyVariant Identifiers: chr2:g.73799628T>G (hg19) ; chr2:g.73572501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572501T>G , CM000664.2:g.73572501T>G	GRCh38
NC_000002.11:g.73799628T>G , CM000664.1:g.73799628T>G	GRCh37
NC_000002.10:g.73653136T>G	NCBI36
NG_011690.1:g.191749T>G , LRG_741:g.191749T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10243T>G	ENSP00000507671.1:p.Tyr3415Asp
ENST00000682801.1:c.10243T>G	ENSP00000507862.1:p.Tyr3415Asp
ENST00000682859.1:c.10243T>G	ENSP00000508222.1:p.Tyr3415Asp
ENST00000683791.1:c.3329T>G
ENST00000684460.1:c.7524T>G
ENST00000684548.1:c.10243T>G	ENSP00000507421.1:p.Tyr3415Asp
ENST00000684590.1:c.4690T>G	ENSP00000507376.1:p.Tyr1564Asp
ENST00000684656.1:c.7569T>G
ENST00000613296.6:c.10624T>G MANE Select	ENSP00000482968.1:p.Tyr3542Asp
ENST00000651057.1:c.778T>G	ENSP00000498504.1:p.Tyr260Asp
ENST00000651434.1:c.1980T>G
ENST00000651750.1:c.12T>G
ENST00000652487.1:c.1721T>G
ENST00000423048.5:c.4115T>G	ENSP00000399833.1:n.4115T>G
ENST00000484298.5:c.10498T>G	ENSP00000478155.1:p.Tyr3500Asp
ENST00000613296.4:c.10624T>G	ENSP00000482968.1:p.Tyr3542Asp
ENST00000614410.4:c.10624T>G	ENSP00000479094.1:p.Tyr3542Asp
ENST00000620466.4:n.4427T>G
NM_015120.4:c.10627T>G , LRG_741t1:c.10627T>G	NP_055935.4:p.Tyr3543Asp
NM_001378454.1:c.10624T>G MANE Select	NP_001365383.1:p.Tyr3542Asp