Canonical Allele Identifier: CA347283577

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799554A>T (hg19) ; chr2:g.73572427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572427A>T , CM000664.2:g.73572427A>T	GRCh38
NC_000002.11:g.73799554A>T , CM000664.1:g.73799554A>T	GRCh37
NC_000002.10:g.73653062A>T	NCBI36
NG_011690.1:g.191675A>T , LRG_741:g.191675A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10169A>T	ENSP00000507671.1:p.His3390Leu
ENST00000682801.1:c.10169A>T	ENSP00000507862.1:p.His3390Leu
ENST00000682859.1:c.10169A>T	ENSP00000508222.1:p.His3390Leu
ENST00000683791.1:c.3255A>T
ENST00000684460.1:c.7450A>T
ENST00000684548.1:c.10169A>T	ENSP00000507421.1:p.His3390Leu
ENST00000684590.1:c.4616A>T	ENSP00000507376.1:p.His1539Leu
ENST00000684656.1:c.7495A>T
ENST00000613296.6:c.10550A>T MANE Select	ENSP00000482968.1:p.His3517Leu
ENST00000651057.1:c.704A>T	ENSP00000498504.1:p.His235Leu
ENST00000651434.1:c.1906A>T
ENST00000652487.1:c.1647A>T
ENST00000423048.5:c.4041A>T	ENSP00000399833.1:n.4041A>T
ENST00000484298.5:c.10424A>T	ENSP00000478155.1:p.His3475Leu
ENST00000613296.4:c.10550A>T	ENSP00000482968.1:p.His3517Leu
ENST00000614410.4:c.10550A>T	ENSP00000479094.1:p.His3517Leu
ENST00000620466.4:n.4353A>T
NM_015120.4:c.10553A>T , LRG_741t1:c.10553A>T	NP_055935.4:p.His3518Leu
NM_001378454.1:c.10550A>T MANE Select	NP_001365383.1:p.His3517Leu