Canonical Allele Identifier: CA347276050

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73450149-G-A
• MyVariant Identifiers: chr2:g.73677276G>A (hg19) ; chr2:g.73450149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450149G>A , CM000664.2:g.73450149G>A	GRCh38
NC_000002.11:g.73677276G>A , CM000664.1:g.73677276G>A	GRCh37
NC_000002.10:g.73530784G>A	NCBI36
NG_011690.1:g.69397G>A , LRG_741:g.69397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3241G>A	ENSP00000507671.1:p.Gly1081Ser
ENST00000682801.1:c.3241G>A	ENSP00000507862.1:p.Gly1081Ser
ENST00000682859.1:c.3241G>A	ENSP00000508222.1:p.Gly1081Ser
ENST00000683791.1:c.685+17858G>A
ENST00000684460.1:c.693G>A
ENST00000684548.1:c.3241G>A	ENSP00000507421.1:p.Gly1081Ser
ENST00000684656.1:c.693G>A
ENST00000613296.6:c.3622G>A MANE Select	ENSP00000482968.1:p.Gly1208Ser
ENST00000484298.5:c.3496G>A	ENSP00000478155.1:p.Gly1166Ser
ENST00000613296.4:c.3622G>A	ENSP00000482968.1:p.Gly1208Ser
ENST00000614410.4:c.3622G>A	ENSP00000479094.1:p.Gly1208Ser
NM_015120.4:c.3625G>A , LRG_741t1:c.3625G>A	NP_055935.4:p.Gly1209Ser
NM_001378454.1:c.3622G>A MANE Select	NP_001365383.1:p.Gly1208Ser