Canonical Allele Identifier: CA347267730

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717253T>C (hg19) ; chr2:g.73490126T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490126T>C , CM000664.2:g.73490126T>C	GRCh38
NC_000002.11:g.73717253T>C , CM000664.1:g.73717253T>C	GRCh37
NC_000002.10:g.73570761T>C	NCBI36
NG_011690.1:g.109374T>C , LRG_741:g.109374T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7786T>C	ENSP00000507671.1:p.Ser2596Pro
ENST00000682801.1:c.7786T>C	ENSP00000507862.1:p.Ser2596Pro
ENST00000682859.1:c.7786T>C	ENSP00000508222.1:p.Ser2596Pro
ENST00000683791.1:c.1178T>C
ENST00000684460.1:c.5238T>C
ENST00000684548.1:c.7786T>C	ENSP00000507421.1:p.Ser2596Pro
ENST00000684590.1:c.2233T>C	ENSP00000507376.1:p.Ser745Pro
ENST00000684656.1:c.5238T>C
ENST00000613296.6:c.8167T>C MANE Select	ENSP00000482968.1:p.Ser2723Pro
ENST00000651434.1:c.896-29649T>C
ENST00000423048.5:c.2998T>C	ENSP00000399833.1:p.Ser1000Pro
ENST00000484298.5:c.8041T>C	ENSP00000478155.1:p.Ser2681Pro
ENST00000613296.4:c.8167T>C	ENSP00000482968.1:p.Ser2723Pro
ENST00000614410.4:c.8167T>C	ENSP00000479094.1:p.Ser2723Pro
ENST00000620466.4:n.1970T>C
NM_015120.4:c.8170T>C , LRG_741t1:c.8170T>C	NP_055935.4:p.Ser2724Pro
NM_001378454.1:c.8167T>C MANE Select	NP_001365383.1:p.Ser2723Pro