Canonical Allele Identifier: CA347283613

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799557A>T (hg19) ; chr2:g.73572430A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572430A>T , CM000664.2:g.73572430A>T	GRCh38
NC_000002.11:g.73799557A>T , CM000664.1:g.73799557A>T	GRCh37
NC_000002.10:g.73653065A>T	NCBI36
NG_011690.1:g.191678A>T , LRG_741:g.191678A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10172A>T	ENSP00000507671.1:p.His3391Leu
ENST00000682801.1:c.10172A>T	ENSP00000507862.1:p.His3391Leu
ENST00000682859.1:c.10172A>T	ENSP00000508222.1:p.His3391Leu
ENST00000683791.1:c.3258A>T
ENST00000684460.1:c.7453A>T
ENST00000684548.1:c.10172A>T	ENSP00000507421.1:p.His3391Leu
ENST00000684590.1:c.4619A>T	ENSP00000507376.1:p.His1540Leu
ENST00000684656.1:c.7498A>T
ENST00000613296.6:c.10553A>T MANE Select	ENSP00000482968.1:p.His3518Leu
ENST00000651057.1:c.707A>T	ENSP00000498504.1:p.His236Leu
ENST00000651434.1:c.1909A>T
ENST00000652487.1:c.1650A>T
ENST00000423048.5:c.4044A>T	ENSP00000399833.1:n.4044A>T
ENST00000484298.5:c.10427A>T	ENSP00000478155.1:p.His3476Leu
ENST00000613296.4:c.10553A>T	ENSP00000482968.1:p.His3518Leu
ENST00000614410.4:c.10553A>T	ENSP00000479094.1:p.His3518Leu
ENST00000620466.4:n.4356A>T
NM_015120.4:c.10556A>T , LRG_741t1:c.10556A>T	NP_055935.4:p.His3519Leu
NM_001378454.1:c.10553A>T MANE Select	NP_001365383.1:p.His3518Leu