Canonical Allele Identifier: CA347266968

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828526G>C (hg19) ; chr2:g.73601399G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601399G>C , CM000664.2:g.73601399G>C	GRCh38
NC_000002.11:g.73828526G>C , CM000664.1:g.73828526G>C	GRCh37
NC_000002.10:g.73682034G>C	NCBI36
NG_011690.1:g.220647G>C , LRG_741:g.220647G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11696G>C	ENSP00000507671.1:p.Arg3899Thr
ENST00000682801.1:c.11167-786G>C	ENSP00000507862.1:n.11167-786G>C
ENST00000682859.1:c.11696G>C	ENSP00000508222.1:p.Arg3899Thr
ENST00000683791.1:c.4782G>C
ENST00000684460.1:c.8977G>C
ENST00000684548.1:c.11696G>C	ENSP00000507421.1:p.Arg3899Thr
ENST00000684590.1:c.6143G>C	ENSP00000507376.1:p.Arg2048Thr
ENST00000684656.1:c.9161G>C
ENST00000613296.6:c.12077G>C MANE Select	ENSP00000482968.1:p.Arg4026Thr
ENST00000651057.1:c.2231G>C	ENSP00000498504.1:p.Arg744Thr
ENST00000651434.1:c.3433G>C
ENST00000651750.1:c.1260+518G>C
ENST00000652487.1:c.3248G>C
ENST00000464408.3:n.252G>C
ENST00000484298.5:c.11951G>C	ENSP00000478155.1:p.Arg3984Thr
ENST00000613296.4:c.12077G>C	ENSP00000482968.1:p.Arg4026Thr
ENST00000620466.4:n.5880G>C
NM_015120.4:c.12080G>C , LRG_741t1:c.12080G>C	NP_055935.4:p.Arg4027Thr
NM_001378454.1:c.12077G>C MANE Select	NP_001365383.1:p.Arg4026Thr