Canonical Allele Identifier: CA347267137

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490008-A-C
• MyVariant Identifiers: chr2:g.73717135A>C (hg19) ; chr2:g.73490008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490008A>C , CM000664.2:g.73490008A>C	GRCh38
NC_000002.11:g.73717135A>C , CM000664.1:g.73717135A>C	GRCh37
NC_000002.10:g.73570643A>C	NCBI36
NG_011690.1:g.109256A>C , LRG_741:g.109256A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7668A>C	ENSP00000507671.1:p.Leu2556Phe
ENST00000682801.1:c.7668A>C	ENSP00000507862.1:p.Leu2556Phe
ENST00000682859.1:c.7668A>C	ENSP00000508222.1:p.Leu2556Phe
ENST00000683791.1:c.1060A>C
ENST00000684460.1:c.5120A>C
ENST00000684548.1:c.7668A>C	ENSP00000507421.1:p.Leu2556Phe
ENST00000684590.1:c.2115A>C	ENSP00000507376.1:p.Leu705Phe
ENST00000684656.1:c.5120A>C
ENST00000613296.6:c.8049A>C MANE Select	ENSP00000482968.1:p.Leu2683Phe
ENST00000651434.1:c.896-29767A>C
ENST00000423048.5:c.2880A>C	ENSP00000399833.1:p.Leu960Phe
ENST00000484298.5:c.7923A>C	ENSP00000478155.1:p.Leu2641Phe
ENST00000613296.4:c.8049A>C	ENSP00000482968.1:p.Leu2683Phe
ENST00000614410.4:c.8049A>C	ENSP00000479094.1:p.Leu2683Phe
ENST00000620466.4:n.1852A>C
NM_015120.4:c.8052A>C , LRG_741t1:c.8052A>C	NP_055935.4:p.Leu2684Phe
NM_001378454.1:c.8049A>C MANE Select	NP_001365383.1:p.Leu2683Phe