Canonical Allele Identifier: CA347267974

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1056389
• ClinVar RCV Id: RCV001365209
• dbSNP Id: rs2103891180
• gnomAD v4: 2-73490205-T-C
• MyVariant Identifiers: chr2:g.73717332T>C (hg19) ; chr2:g.73490205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490205T>C , CM000664.2:g.73490205T>C	GRCh38
NC_000002.11:g.73717332T>C , CM000664.1:g.73717332T>C	GRCh37
NC_000002.10:g.73570840T>C	NCBI36
NG_011690.1:g.109453T>C , LRG_741:g.109453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7865T>C	ENSP00000507671.1:p.Val2622Ala
ENST00000682801.1:c.7865T>C	ENSP00000507862.1:p.Val2622Ala
ENST00000682859.1:c.7865T>C	ENSP00000508222.1:p.Val2622Ala
ENST00000683791.1:c.1257T>C
ENST00000684460.1:c.5317T>C
ENST00000684548.1:c.7865T>C	ENSP00000507421.1:p.Val2622Ala
ENST00000684590.1:c.2312T>C	ENSP00000507376.1:p.Val771Ala
ENST00000684656.1:c.5317T>C
ENST00000613296.6:c.8246T>C MANE Select	ENSP00000482968.1:p.Val2749Ala
ENST00000651434.1:c.896-29570T>C
ENST00000423048.5:c.3030+47T>C	ENSP00000399833.1:n.3030+47T>C
ENST00000484298.5:c.8120T>C	ENSP00000478155.1:p.Val2707Ala
ENST00000613296.4:c.8246T>C	ENSP00000482968.1:p.Val2749Ala
ENST00000614410.4:c.8246T>C	ENSP00000479094.1:p.Val2749Ala
ENST00000620466.4:n.2049T>C
NM_015120.4:c.8249T>C , LRG_741t1:c.8249T>C	NP_055935.4:p.Val2750Ala
NM_001378454.1:c.8246T>C MANE Select	NP_001365383.1:p.Val2749Ala