Canonical Allele Identifier: CA50378139

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1964015
• ClinVar RCV Id: RCV002716338
• dbSNP Id: rs960279930
• MyVariant Identifiers: chr2:g.73717238T>C (hg19) ; chr2:g.73490111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490111T>C , CM000664.2:g.73490111T>C	GRCh38
NC_000002.11:g.73717238T>C , CM000664.1:g.73717238T>C	GRCh37
NC_000002.10:g.73570746T>C	NCBI36
NG_011690.1:g.109359T>C , LRG_741:g.109359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7771T>C	ENSP00000507671.1:p.Ser2591Pro
ENST00000682801.1:c.7771T>C	ENSP00000507862.1:p.Ser2591Pro
ENST00000682859.1:c.7771T>C	ENSP00000508222.1:p.Ser2591Pro
ENST00000683791.1:c.1163T>C
ENST00000684460.1:c.5223T>C
ENST00000684548.1:c.7771T>C	ENSP00000507421.1:p.Ser2591Pro
ENST00000684590.1:c.2218T>C	ENSP00000507376.1:p.Ser740Pro
ENST00000684656.1:c.5223T>C
ENST00000613296.6:c.8152T>C MANE Select	ENSP00000482968.1:p.Ser2718Pro
ENST00000651434.1:c.896-29664T>C
ENST00000423048.5:c.2983T>C	ENSP00000399833.1:p.Ser995Pro
ENST00000484298.5:c.8026T>C	ENSP00000478155.1:p.Ser2676Pro
ENST00000613296.4:c.8152T>C	ENSP00000482968.1:p.Ser2718Pro
ENST00000614410.4:c.8152T>C	ENSP00000479094.1:p.Ser2718Pro
ENST00000620466.4:n.1955T>C
NM_015120.4:c.8155T>C , LRG_741t1:c.8155T>C	NP_055935.4:p.Ser2719Pro
NM_001378454.1:c.8152T>C MANE Select	NP_001365383.1:p.Ser2718Pro