Canonical Allele Identifier: CA426765379

Gene: ALMS1

Linked Data

• dbSNP Id: rs1287366923
• gnomAD v2: 2-73716820-T-C
• gnomAD v4: 2-73489693-T-C
• MyVariant Identifiers: chr2:g.73716820T>C (hg19) ; chr2:g.73489693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489693T>C , CM000664.2:g.73489693T>C	GRCh38
NC_000002.11:g.73716820T>C , CM000664.1:g.73716820T>C	GRCh37
NC_000002.10:g.73570328T>C	NCBI36
NG_011690.1:g.108941T>C , LRG_741:g.108941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7353T>C	ENSP00000507671.1:p.Ile2451=
ENST00000682801.1:c.7353T>C	ENSP00000507862.1:p.Ile2451=
ENST00000682859.1:c.7353T>C	ENSP00000508222.1:p.Ile2451=
ENST00000683791.1:c.745T>C
ENST00000684460.1:c.4805T>C
ENST00000684548.1:c.7353T>C	ENSP00000507421.1:p.Ile2451=
ENST00000684590.1:c.1800T>C	ENSP00000507376.1:p.Ile600=
ENST00000684656.1:c.4805T>C
ENST00000613296.6:c.7734T>C MANE Select	ENSP00000482968.1:p.Ile2578=
ENST00000651434.1:c.896-30082T>C
ENST00000423048.5:c.2565T>C	ENSP00000399833.1:p.Ile855=
ENST00000484298.5:c.7608T>C	ENSP00000478155.1:p.Ile2536=
ENST00000613296.4:c.7734T>C	ENSP00000482968.1:p.Ile2578=
ENST00000614410.4:c.7734T>C	ENSP00000479094.1:p.Ile2578=
ENST00000620466.4:n.1537T>C
NM_015120.4:c.7737T>C , LRG_741t1:c.7737T>C	NP_055935.4:p.Ile2579=
NM_001378454.1:c.7734T>C MANE Select	NP_001365383.1:p.Ile2578=