Canonical Allele Identifier: CA347283031

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799469C>T (hg19) ; chr2:g.73572342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572342C>T , CM000664.2:g.73572342C>T	GRCh38
NC_000002.11:g.73799469C>T , CM000664.1:g.73799469C>T	GRCh37
NC_000002.10:g.73652977C>T	NCBI36
NG_011690.1:g.191590C>T , LRG_741:g.191590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10084C>T	ENSP00000507671.1:p.His3362Tyr
ENST00000682801.1:c.10084C>T	ENSP00000507862.1:p.His3362Tyr
ENST00000682859.1:c.10084C>T	ENSP00000508222.1:p.His3362Tyr
ENST00000683791.1:c.3170C>T
ENST00000684460.1:c.7365C>T
ENST00000684548.1:c.10084C>T	ENSP00000507421.1:p.His3362Tyr
ENST00000684590.1:c.4531C>T	ENSP00000507376.1:p.His1511Tyr
ENST00000684656.1:c.7410C>T
ENST00000613296.6:c.10465C>T MANE Select	ENSP00000482968.1:p.His3489Tyr
ENST00000651057.1:c.619C>T	ENSP00000498504.1:p.His207Tyr
ENST00000651434.1:c.1821C>T
ENST00000652487.1:c.1562C>T
ENST00000423048.5:c.3956C>T	ENSP00000399833.1:n.3956C>T
ENST00000484298.5:c.10339C>T	ENSP00000478155.1:p.His3447Tyr
ENST00000613296.4:c.10465C>T	ENSP00000482968.1:p.His3489Tyr
ENST00000614410.4:c.10465C>T	ENSP00000479094.1:p.His3489Tyr
ENST00000620466.4:n.4268C>T
NM_015120.4:c.10468C>T , LRG_741t1:c.10468C>T	NP_055935.4:p.His3490Tyr
NM_001378454.1:c.10465C>T MANE Select	NP_001365383.1:p.His3489Tyr