Canonical Allele Identifier: CA50378099

Gene: ALMS1

Linked Data

• dbSNP Id: rs374573958
• gnomAD v2: 2-73717217-T-C
• gnomAD v3: 2-73490090-T-C
• gnomAD v4: 2-73490090-T-C
• MyVariant Identifiers: chr2:g.73717217T>C (hg19) ; chr2:g.73490090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490090T>C , CM000664.2:g.73490090T>C	GRCh38
NC_000002.11:g.73717217T>C , CM000664.1:g.73717217T>C	GRCh37
NC_000002.10:g.73570725T>C	NCBI36
NG_011690.1:g.109338T>C , LRG_741:g.109338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7750T>C	ENSP00000507671.1:p.Phe2584Leu
ENST00000682801.1:c.7750T>C	ENSP00000507862.1:p.Phe2584Leu
ENST00000682859.1:c.7750T>C	ENSP00000508222.1:p.Phe2584Leu
ENST00000683791.1:c.1142T>C
ENST00000684460.1:c.5202T>C
ENST00000684548.1:c.7750T>C	ENSP00000507421.1:p.Phe2584Leu
ENST00000684590.1:c.2197T>C	ENSP00000507376.1:p.Phe733Leu
ENST00000684656.1:c.5202T>C
ENST00000613296.6:c.8131T>C MANE Select	ENSP00000482968.1:p.Phe2711Leu
ENST00000651434.1:c.896-29685T>C
ENST00000423048.5:c.2962T>C	ENSP00000399833.1:p.Phe988Leu
ENST00000484298.5:c.8005T>C	ENSP00000478155.1:p.Phe2669Leu
ENST00000613296.4:c.8131T>C	ENSP00000482968.1:p.Phe2711Leu
ENST00000614410.4:c.8131T>C	ENSP00000479094.1:p.Phe2711Leu
ENST00000620466.4:n.1934T>C
NM_015120.4:c.8134T>C , LRG_741t1:c.8134T>C	NP_055935.4:p.Phe2712Leu
NM_001378454.1:c.8131T>C MANE Select	NP_001365383.1:p.Phe2711Leu