Canonical Allele Identifier: CA247738

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 198876
• ClinVar RCV Id: RCV002408782 ; RCV000180334 ; RCV000445510 ; RCV000825702 ; RCV001086118
• dbSNP Id: rs148040591
• ExAC: 2:73675492 G / A
• gnomAD v2: 2-73675492-G-A
• gnomAD v3: 2-73448365-G-A
• gnomAD v4: 2-73448365-G-A
• MyVariant Identifiers: chr2:g.73675492G>A (hg19) ; chr2:g.73448365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448365G>A , CM000664.2:g.73448365G>A	GRCh38
NC_000002.11:g.73675492G>A , CM000664.1:g.73675492G>A	GRCh37
NC_000002.10:g.73529000G>A	NCBI36
NG_011690.1:g.67613G>A , LRG_741:g.67613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.1457G>A	ENSP00000507671.1:p.Gly486Asp
ENST00000682801.1:c.1457G>A	ENSP00000507862.1:p.Gly486Asp
ENST00000682859.1:c.1457G>A	ENSP00000508222.1:p.Gly486Asp
ENST00000683791.1:c.685+16074G>A
ENST00000684548.1:c.1457G>A	ENSP00000507421.1:p.Gly486Asp
ENST00000613296.6:c.1838G>A MANE Select	ENSP00000482968.1:p.Gly613Asp
ENST00000484298.5:c.1712G>A	ENSP00000478155.1:p.Gly571Asp
ENST00000613296.4:c.1838G>A	ENSP00000482968.1:p.Gly613Asp
ENST00000614410.4:c.1838G>A	ENSP00000479094.1:p.Gly613Asp
NM_015120.4:c.1841G>A , LRG_741t1:c.1841G>A	NP_055935.4:p.Gly614Asp
NM_001378454.1:c.1838G>A MANE Select	NP_001365383.1:p.Gly613Asp