Canonical Allele Identifier: CA347266326

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828451T>A (hg19) ; chr2:g.73601324T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601324T>A , CM000664.2:g.73601324T>A	GRCh38
NC_000002.11:g.73828451T>A , CM000664.1:g.73828451T>A	GRCh37
NC_000002.10:g.73681959T>A	NCBI36
NG_011690.1:g.220572T>A , LRG_741:g.220572T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.11621T>A	ENSP00000507671.1:p.Leu3874Gln
ENST00000682801.1:c.11167-861T>A	ENSP00000507862.1:n.11167-861T>A
ENST00000682859.1:c.11621T>A	ENSP00000508222.1:p.Leu3874Gln
ENST00000683791.1:c.4707T>A
ENST00000684460.1:c.8902T>A
ENST00000684548.1:c.11621T>A	ENSP00000507421.1:p.Leu3874Gln
ENST00000684590.1:c.6068T>A	ENSP00000507376.1:p.Leu2023Gln
ENST00000684656.1:c.9086T>A
ENST00000613296.6:c.12002T>A MANE Select	ENSP00000482968.1:p.Leu4001Gln
ENST00000651057.1:c.2156T>A	ENSP00000498504.1:p.Leu719Gln
ENST00000651434.1:c.3358T>A
ENST00000651750.1:c.1260+443T>A
ENST00000652487.1:c.3173T>A
ENST00000464408.3:n.177T>A
ENST00000484298.5:c.11876T>A	ENSP00000478155.1:p.Leu3959Gln
ENST00000613296.4:c.12002T>A	ENSP00000482968.1:p.Leu4001Gln
ENST00000620466.4:n.5805T>A
NM_015120.4:c.12005T>A , LRG_741t1:c.12005T>A	NP_055935.4:p.Leu4002Gln
NM_001378454.1:c.12002T>A MANE Select	NP_001365383.1:p.Leu4001Gln