Canonical Allele Identifier: CA347286377

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799951T>G (hg19) ; chr2:g.73572824T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572824T>G , CM000664.2:g.73572824T>G	GRCh38
NC_000002.11:g.73799951T>G , CM000664.1:g.73799951T>G	GRCh37
NC_000002.10:g.73653459T>G	NCBI36
NG_011690.1:g.192072T>G , LRG_741:g.192072T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10566T>G	ENSP00000507671.1:p.Ser3522Arg
ENST00000682801.1:c.10566T>G	ENSP00000507862.1:p.Ser3522Arg
ENST00000682859.1:c.10566T>G	ENSP00000508222.1:p.Ser3522Arg
ENST00000683791.1:c.3652T>G
ENST00000684460.1:c.7847T>G
ENST00000684548.1:c.10566T>G	ENSP00000507421.1:p.Ser3522Arg
ENST00000684590.1:c.5013T>G	ENSP00000507376.1:p.Ser1671Arg
ENST00000684656.1:c.7892T>G
ENST00000613296.6:c.10947T>G MANE Select	ENSP00000482968.1:p.Ser3649Arg
ENST00000651057.1:c.1101T>G	ENSP00000498504.1:p.Ser367Arg
ENST00000651434.1:c.2303T>G
ENST00000651750.1:c.335T>G
ENST00000652487.1:c.2044T>G
ENST00000423048.5:c.4438T>G	ENSP00000399833.1:n.4438T>G
ENST00000484298.5:c.10821T>G	ENSP00000478155.1:p.Ser3607Arg
ENST00000613296.4:c.10947T>G	ENSP00000482968.1:p.Ser3649Arg
ENST00000614410.4:c.10947T>G	ENSP00000479094.1:p.Ser3649Arg
ENST00000620466.4:n.4750T>G
NM_015120.4:c.10950T>G , LRG_741t1:c.10950T>G	NP_055935.4:p.Ser3650Arg
NM_001378454.1:c.10947T>G MANE Select	NP_001365383.1:p.Ser3649Arg