Canonical Allele Identifier: CA347276043

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73677272G>C (hg19) ; chr2:g.73450145G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450145G>C , CM000664.2:g.73450145G>C	GRCh38
NC_000002.11:g.73677272G>C , CM000664.1:g.73677272G>C	GRCh37
NC_000002.10:g.73530780G>C	NCBI36
NG_011690.1:g.69393G>C , LRG_741:g.69393G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3237G>C	ENSP00000507671.1:p.Leu1079Phe
ENST00000682801.1:c.3237G>C	ENSP00000507862.1:p.Leu1079Phe
ENST00000682859.1:c.3237G>C	ENSP00000508222.1:p.Leu1079Phe
ENST00000683791.1:c.685+17854G>C
ENST00000684460.1:c.689G>C
ENST00000684548.1:c.3237G>C	ENSP00000507421.1:p.Leu1079Phe
ENST00000684656.1:c.689G>C
ENST00000613296.6:c.3618G>C MANE Select	ENSP00000482968.1:p.Leu1206Phe
ENST00000484298.5:c.3492G>C	ENSP00000478155.1:p.Leu1164Phe
ENST00000613296.4:c.3618G>C	ENSP00000482968.1:p.Leu1206Phe
ENST00000614410.4:c.3618G>C	ENSP00000479094.1:p.Leu1206Phe
NM_015120.4:c.3621G>C , LRG_741t1:c.3621G>C	NP_055935.4:p.Leu1207Phe
NM_001378454.1:c.3618G>C MANE Select	NP_001365383.1:p.Leu1206Phe