Canonical Allele Identifier: CA347266757

Gene: ALMS1

Linked Data

• dbSNP Id: rs1261104323
• gnomAD v2: 2-73828499-T-C
• gnomAD v4: 2-73601372-T-C
• MyVariant Identifiers: chr2:g.73828499T>C (hg19) ; chr2:g.73601372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601372T>C , CM000664.2:g.73601372T>C	GRCh38
NC_000002.11:g.73828499T>C , CM000664.1:g.73828499T>C	GRCh37
NC_000002.10:g.73682007T>C	NCBI36
NG_011690.1:g.220620T>C , LRG_741:g.220620T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11669T>C	ENSP00000507671.1:p.Leu3890Pro
ENST00000682801.1:c.11167-813T>C	ENSP00000507862.1:n.11167-813T>C
ENST00000682859.1:c.11669T>C	ENSP00000508222.1:p.Leu3890Pro
ENST00000683791.1:c.4755T>C
ENST00000684460.1:c.8950T>C
ENST00000684548.1:c.11669T>C	ENSP00000507421.1:p.Leu3890Pro
ENST00000684590.1:c.6116T>C	ENSP00000507376.1:p.Leu2039Pro
ENST00000684656.1:c.9134T>C
ENST00000613296.6:c.12050T>C MANE Select	ENSP00000482968.1:p.Leu4017Pro
ENST00000651057.1:c.2204T>C	ENSP00000498504.1:p.Leu735Pro
ENST00000651434.1:c.3406T>C
ENST00000651750.1:c.1260+491T>C
ENST00000652487.1:c.3221T>C
ENST00000464408.3:n.225T>C
ENST00000484298.5:c.11924T>C	ENSP00000478155.1:p.Leu3975Pro
ENST00000613296.4:c.12050T>C	ENSP00000482968.1:p.Leu4017Pro
ENST00000620466.4:n.5853T>C
NM_015120.4:c.12053T>C , LRG_741t1:c.12053T>C	NP_055935.4:p.Leu4018Pro
NM_001378454.1:c.12050T>C MANE Select	NP_001365383.1:p.Leu4017Pro