Canonical Allele Identifier: CA347284690

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799678A>T (hg19) ; chr2:g.73572551A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572551A>T , CM000664.2:g.73572551A>T	GRCh38
NC_000002.11:g.73799678A>T , CM000664.1:g.73799678A>T	GRCh37
NC_000002.10:g.73653186A>T	NCBI36
NG_011690.1:g.191799A>T , LRG_741:g.191799A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10293A>T	ENSP00000507671.1:p.Glu3431Asp
ENST00000682801.1:c.10293A>T	ENSP00000507862.1:p.Glu3431Asp
ENST00000682859.1:c.10293A>T	ENSP00000508222.1:p.Glu3431Asp
ENST00000683791.1:c.3379A>T
ENST00000684460.1:c.7574A>T
ENST00000684548.1:c.10293A>T	ENSP00000507421.1:p.Glu3431Asp
ENST00000684590.1:c.4740A>T	ENSP00000507376.1:p.Glu1580Asp
ENST00000684656.1:c.7619A>T
ENST00000613296.6:c.10674A>T MANE Select	ENSP00000482968.1:p.Glu3558Asp
ENST00000651057.1:c.828A>T	ENSP00000498504.1:p.Glu276Asp
ENST00000651434.1:c.2030A>T
ENST00000651750.1:c.62A>T
ENST00000652487.1:c.1771A>T
ENST00000423048.5:c.4165A>T	ENSP00000399833.1:n.4165A>T
ENST00000484298.5:c.10548A>T	ENSP00000478155.1:p.Glu3516Asp
ENST00000613296.4:c.10674A>T	ENSP00000482968.1:p.Glu3558Asp
ENST00000614410.4:c.10674A>T	ENSP00000479094.1:p.Glu3558Asp
ENST00000620466.4:n.4477A>T
NM_015120.4:c.10677A>T , LRG_741t1:c.10677A>T	NP_055935.4:p.Glu3559Asp
NM_001378454.1:c.10674A>T MANE Select	NP_001365383.1:p.Glu3558Asp