Canonical Allele Identifier: CA347266016

Gene: ALMS1

Linked Data

• dbSNP Id: rs1672937031
• MyVariant Identifiers: chr2:g.73716944T>A (hg19) ; chr2:g.73489817T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489817T>A , CM000664.2:g.73489817T>A	GRCh38
NC_000002.11:g.73716944T>A , CM000664.1:g.73716944T>A	GRCh37
NC_000002.10:g.73570452T>A	NCBI36
NG_011690.1:g.109065T>A , LRG_741:g.109065T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7477T>A	ENSP00000507671.1:p.Ser2493Thr
ENST00000682801.1:c.7477T>A	ENSP00000507862.1:p.Ser2493Thr
ENST00000682859.1:c.7477T>A	ENSP00000508222.1:p.Ser2493Thr
ENST00000683791.1:c.869T>A
ENST00000684460.1:c.4929T>A
ENST00000684548.1:c.7477T>A	ENSP00000507421.1:p.Ser2493Thr
ENST00000684590.1:c.1924T>A	ENSP00000507376.1:p.Ser642Thr
ENST00000684656.1:c.4929T>A
ENST00000613296.6:c.7858T>A MANE Select	ENSP00000482968.1:p.Ser2620Thr
ENST00000651434.1:c.896-29958T>A
ENST00000423048.5:c.2689T>A	ENSP00000399833.1:p.Ser897Thr
ENST00000484298.5:c.7732T>A	ENSP00000478155.1:p.Ser2578Thr
ENST00000613296.4:c.7858T>A	ENSP00000482968.1:p.Ser2620Thr
ENST00000614410.4:c.7858T>A	ENSP00000479094.1:p.Ser2620Thr
ENST00000620466.4:n.1661T>A
NM_015120.4:c.7861T>A , LRG_741t1:c.7861T>A	NP_055935.4:p.Ser2621Thr
NM_001378454.1:c.7858T>A MANE Select	NP_001365383.1:p.Ser2620Thr