Canonical Allele Identifier: CA347265508

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828348A>C (hg19) ; chr2:g.73601221A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601221A>C , CM000664.2:g.73601221A>C	GRCh38
NC_000002.11:g.73828348A>C , CM000664.1:g.73828348A>C	GRCh37
NC_000002.10:g.73681856A>C	NCBI36
NG_011690.1:g.220469A>C , LRG_741:g.220469A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11518A>C	ENSP00000507671.1:p.Asn3840His
ENST00000682801.1:c.11167-964A>C	ENSP00000507862.1:n.11167-964A>C
ENST00000682859.1:c.11518A>C	ENSP00000508222.1:p.Asn3840His
ENST00000683791.1:c.4604A>C
ENST00000684460.1:c.8799A>C
ENST00000684548.1:c.11518A>C	ENSP00000507421.1:p.Asn3840His
ENST00000684590.1:c.5965A>C	ENSP00000507376.1:p.Asn1989His
ENST00000684656.1:c.8983A>C
ENST00000613296.6:c.11899A>C MANE Select	ENSP00000482968.1:p.Asn3967His
ENST00000651057.1:c.2053A>C	ENSP00000498504.1:p.Asn685His
ENST00000651434.1:c.3255A>C
ENST00000651750.1:c.1260+340A>C
ENST00000652487.1:c.3070A>C
ENST00000464408.3:n.74A>C
ENST00000484298.5:c.11773A>C	ENSP00000478155.1:p.Asn3925His
ENST00000613296.4:c.11899A>C	ENSP00000482968.1:p.Asn3967His
ENST00000620466.4:n.5702A>C
NM_015120.4:c.11902A>C , LRG_741t1:c.11902A>C	NP_055935.4:p.Asn3968His
NM_001378454.1:c.11899A>C MANE Select	NP_001365383.1:p.Asn3967His