Canonical Allele Identifier: CA347267736

Gene: ALMS1

Linked Data

• dbSNP Id: rs749047311
• gnomAD v2: 2-73717256-A-T
• gnomAD v4: 2-73490129-A-T
• MyVariant Identifiers: chr2:g.73717256A>T (hg19) ; chr2:g.73490129A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490129A>T , CM000664.2:g.73490129A>T	GRCh38
NC_000002.11:g.73717256A>T , CM000664.1:g.73717256A>T	GRCh37
NC_000002.10:g.73570764A>T	NCBI36
NG_011690.1:g.109377A>T , LRG_741:g.109377A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7789A>T	ENSP00000507671.1:p.Lys2597Ter
ENST00000682801.1:c.7789A>T	ENSP00000507862.1:p.Lys2597Ter
ENST00000682859.1:c.7789A>T	ENSP00000508222.1:p.Lys2597Ter
ENST00000683791.1:c.1181A>T
ENST00000684460.1:c.5241A>T
ENST00000684548.1:c.7789A>T	ENSP00000507421.1:p.Lys2597Ter
ENST00000684590.1:c.2236A>T	ENSP00000507376.1:p.Lys746Ter
ENST00000684656.1:c.5241A>T
ENST00000613296.6:c.8170A>T MANE Select	ENSP00000482968.1:p.Lys2724Ter
ENST00000651434.1:c.896-29646A>T
ENST00000423048.5:c.3001A>T	ENSP00000399833.1:p.Lys1001Ter
ENST00000484298.5:c.8044A>T	ENSP00000478155.1:p.Lys2682Ter
ENST00000613296.4:c.8170A>T	ENSP00000482968.1:p.Lys2724Ter
ENST00000614410.4:c.8170A>T	ENSP00000479094.1:p.Lys2724Ter
ENST00000620466.4:n.1973A>T
NM_015120.4:c.8173A>T , LRG_741t1:c.8173A>T	NP_055935.4:p.Lys2725Ter
NM_001378454.1:c.8170A>T MANE Select	NP_001365383.1:p.Lys2724Ter