Canonical Allele Identifier: CA347267893

Gene: ALMS1

Linked Data

• dbSNP Id: rs1238547007
• gnomAD v2: 2-73717305-G-T
• gnomAD v4: 2-73490178-G-T
• MyVariant Identifiers: chr2:g.73717305G>T (hg19) ; chr2:g.73490178G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490178G>T , CM000664.2:g.73490178G>T	GRCh38
NC_000002.11:g.73717305G>T , CM000664.1:g.73717305G>T	GRCh37
NC_000002.10:g.73570813G>T	NCBI36
NG_011690.1:g.109426G>T , LRG_741:g.109426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7838G>T	ENSP00000507671.1:p.Ser2613Ile
ENST00000682801.1:c.7838G>T	ENSP00000507862.1:p.Ser2613Ile
ENST00000682859.1:c.7838G>T	ENSP00000508222.1:p.Ser2613Ile
ENST00000683791.1:c.1230G>T
ENST00000684460.1:c.5290G>T
ENST00000684548.1:c.7838G>T	ENSP00000507421.1:p.Ser2613Ile
ENST00000684590.1:c.2285G>T	ENSP00000507376.1:p.Ser762Ile
ENST00000684656.1:c.5290G>T
ENST00000613296.6:c.8219G>T MANE Select	ENSP00000482968.1:p.Ser2740Ile
ENST00000651434.1:c.896-29597G>T
ENST00000423048.5:c.3030+20G>T	ENSP00000399833.1:n.3030+20G>T
ENST00000484298.5:c.8093G>T	ENSP00000478155.1:p.Ser2698Ile
ENST00000613296.4:c.8219G>T	ENSP00000482968.1:p.Ser2740Ile
ENST00000614410.4:c.8219G>T	ENSP00000479094.1:p.Ser2740Ile
ENST00000620466.4:n.2022G>T
NM_015120.4:c.8222G>T , LRG_741t1:c.8222G>T	NP_055935.4:p.Ser2741Ile
NM_001378454.1:c.8219G>T MANE Select	NP_001365383.1:p.Ser2740Ile