Canonical Allele Identifier: CA347265988

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601287-G-T
• MyVariant Identifiers: chr2:g.73828414G>T (hg19) ; chr2:g.73601287G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601287G>T , CM000664.2:g.73601287G>T	GRCh38
NC_000002.11:g.73828414G>T , CM000664.1:g.73828414G>T	GRCh37
NC_000002.10:g.73681922G>T	NCBI36
NG_011690.1:g.220535G>T , LRG_741:g.220535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11584G>T	ENSP00000507671.1:p.Glu3862Ter
ENST00000682801.1:c.11167-898G>T	ENSP00000507862.1:n.11167-898G>T
ENST00000682859.1:c.11584G>T	ENSP00000508222.1:p.Glu3862Ter
ENST00000683791.1:c.4670G>T
ENST00000684460.1:c.8865G>T
ENST00000684548.1:c.11584G>T	ENSP00000507421.1:p.Glu3862Ter
ENST00000684590.1:c.6031G>T	ENSP00000507376.1:p.Glu2011Ter
ENST00000684656.1:c.9049G>T
ENST00000613296.6:c.11965G>T MANE Select	ENSP00000482968.1:p.Glu3989Ter
ENST00000651057.1:c.2119G>T	ENSP00000498504.1:p.Glu707Ter
ENST00000651434.1:c.3321G>T
ENST00000651750.1:c.1260+406G>T
ENST00000652487.1:c.3136G>T
ENST00000464408.3:n.140G>T
ENST00000484298.5:c.11839G>T	ENSP00000478155.1:p.Glu3947Ter
ENST00000613296.4:c.11965G>T	ENSP00000482968.1:p.Glu3989Ter
ENST00000620466.4:n.5768G>T
NM_015120.4:c.11968G>T , LRG_741t1:c.11968G>T	NP_055935.4:p.Glu3990Ter
NM_001378454.1:c.11965G>T MANE Select	NP_001365383.1:p.Glu3989Ter