Canonical Allele Identifier: CA347266918

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717101T>G (hg19) ; chr2:g.73489974T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489974T>G , CM000664.2:g.73489974T>G	GRCh38
NC_000002.11:g.73717101T>G , CM000664.1:g.73717101T>G	GRCh37
NC_000002.10:g.73570609T>G	NCBI36
NG_011690.1:g.109222T>G , LRG_741:g.109222T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7634T>G	ENSP00000507671.1:p.Phe2545Cys
ENST00000682801.1:c.7634T>G	ENSP00000507862.1:p.Phe2545Cys
ENST00000682859.1:c.7634T>G	ENSP00000508222.1:p.Phe2545Cys
ENST00000683791.1:c.1026T>G
ENST00000684460.1:c.5086T>G
ENST00000684548.1:c.7634T>G	ENSP00000507421.1:p.Phe2545Cys
ENST00000684590.1:c.2081T>G	ENSP00000507376.1:p.Phe694Cys
ENST00000684656.1:c.5086T>G
ENST00000613296.6:c.8015T>G MANE Select	ENSP00000482968.1:p.Phe2672Cys
ENST00000651434.1:c.896-29801T>G
ENST00000423048.5:c.2846T>G	ENSP00000399833.1:p.Phe949Cys
ENST00000484298.5:c.7889T>G	ENSP00000478155.1:p.Phe2630Cys
ENST00000613296.4:c.8015T>G	ENSP00000482968.1:p.Phe2672Cys
ENST00000614410.4:c.8015T>G	ENSP00000479094.1:p.Phe2672Cys
ENST00000620466.4:n.1818T>G
NM_015120.4:c.8018T>G , LRG_741t1:c.8018T>G	NP_055935.4:p.Phe2673Cys
NM_001378454.1:c.8015T>G MANE Select	NP_001365383.1:p.Phe2672Cys