Canonical Allele Identifier: CA347267132

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828544T>A (hg19) ; chr2:g.73601417T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601417T>A , CM000664.2:g.73601417T>A	GRCh38
NC_000002.11:g.73828544T>A , CM000664.1:g.73828544T>A	GRCh37
NC_000002.10:g.73682052T>A	NCBI36
NG_011690.1:g.220665T>A , LRG_741:g.220665T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11714T>A	ENSP00000507671.1:p.Phe3905Tyr
ENST00000682801.1:c.11167-768T>A	ENSP00000507862.1:n.11167-768T>A
ENST00000682859.1:c.11714T>A	ENSP00000508222.1:p.Phe3905Tyr
ENST00000683791.1:c.4800T>A
ENST00000684460.1:c.8995T>A
ENST00000684548.1:c.11714T>A	ENSP00000507421.1:p.Phe3905Tyr
ENST00000684590.1:c.6161T>A	ENSP00000507376.1:p.Phe2054Tyr
ENST00000684656.1:c.9179T>A
ENST00000613296.6:c.12095T>A MANE Select	ENSP00000482968.1:p.Phe4032Tyr
ENST00000651057.1:c.2249T>A	ENSP00000498504.1:p.Phe750Tyr
ENST00000651434.1:c.3451T>A
ENST00000651750.1:c.1260+536T>A
ENST00000652487.1:c.3266T>A
ENST00000464408.3:n.270T>A
ENST00000484298.5:c.11969T>A	ENSP00000478155.1:p.Phe3990Tyr
ENST00000613296.4:c.12095T>A	ENSP00000482968.1:p.Phe4032Tyr
ENST00000620466.4:n.5898T>A
NM_015120.4:c.12098T>A , LRG_741t1:c.12098T>A	NP_055935.4:p.Phe4033Tyr
NM_001378454.1:c.12095T>A MANE Select	NP_001365383.1:p.Phe4032Tyr