Canonical Allele Identifier: CA347285066

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799722A>T (hg19) ; chr2:g.73572595A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572595A>T , CM000664.2:g.73572595A>T	GRCh38
NC_000002.11:g.73799722A>T , CM000664.1:g.73799722A>T	GRCh37
NC_000002.10:g.73653230A>T	NCBI36
NG_011690.1:g.191843A>T , LRG_741:g.191843A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10337A>T	ENSP00000507671.1:p.His3446Leu
ENST00000682801.1:c.10337A>T	ENSP00000507862.1:p.His3446Leu
ENST00000682859.1:c.10337A>T	ENSP00000508222.1:p.His3446Leu
ENST00000683791.1:c.3423A>T
ENST00000684460.1:c.7618A>T
ENST00000684548.1:c.10337A>T	ENSP00000507421.1:p.His3446Leu
ENST00000684590.1:c.4784A>T	ENSP00000507376.1:p.His1595Leu
ENST00000684656.1:c.7663A>T
ENST00000613296.6:c.10718A>T MANE Select	ENSP00000482968.1:p.His3573Leu
ENST00000651057.1:c.872A>T	ENSP00000498504.1:p.His291Leu
ENST00000651434.1:c.2074A>T
ENST00000651750.1:c.106A>T
ENST00000652487.1:c.1815A>T
ENST00000423048.5:c.4209A>T	ENSP00000399833.1:n.4209A>T
ENST00000484298.5:c.10592A>T	ENSP00000478155.1:p.His3531Leu
ENST00000613296.4:c.10718A>T	ENSP00000482968.1:p.His3573Leu
ENST00000614410.4:c.10718A>T	ENSP00000479094.1:p.His3573Leu
ENST00000620466.4:n.4521A>T
NM_015120.4:c.10721A>T , LRG_741t1:c.10721A>T	NP_055935.4:p.His3574Leu
NM_001378454.1:c.10718A>T MANE Select	NP_001365383.1:p.His3573Leu