Canonical Allele Identifier: CA347267073

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73489996-G-A
• MyVariant Identifiers: chr2:g.73717123G>A (hg19) ; chr2:g.73489996G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489996G>A , CM000664.2:g.73489996G>A	GRCh38
NC_000002.11:g.73717123G>A , CM000664.1:g.73717123G>A	GRCh37
NC_000002.10:g.73570631G>A	NCBI36
NG_011690.1:g.109244G>A , LRG_741:g.109244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7656G>A	ENSP00000507671.1:p.Trp2552Ter
ENST00000682801.1:c.7656G>A	ENSP00000507862.1:p.Trp2552Ter
ENST00000682859.1:c.7656G>A	ENSP00000508222.1:p.Trp2552Ter
ENST00000683791.1:c.1048G>A
ENST00000684460.1:c.5108G>A
ENST00000684548.1:c.7656G>A	ENSP00000507421.1:p.Trp2552Ter
ENST00000684590.1:c.2103G>A	ENSP00000507376.1:p.Trp701Ter
ENST00000684656.1:c.5108G>A
ENST00000613296.6:c.8037G>A MANE Select	ENSP00000482968.1:p.Trp2679Ter
ENST00000651434.1:c.896-29779G>A
ENST00000423048.5:c.2868G>A	ENSP00000399833.1:p.Trp956Ter
ENST00000484298.5:c.7911G>A	ENSP00000478155.1:p.Trp2637Ter
ENST00000613296.4:c.8037G>A	ENSP00000482968.1:p.Trp2679Ter
ENST00000614410.4:c.8037G>A	ENSP00000479094.1:p.Trp2679Ter
ENST00000620466.4:n.1840G>A
NM_015120.4:c.8040G>A , LRG_741t1:c.8040G>A	NP_055935.4:p.Trp2680Ter
NM_001378454.1:c.8037G>A MANE Select	NP_001365383.1:p.Trp2679Ter