Canonical Allele Identifier: CA427020187

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2748921
• ClinVar RCV Id: RCV003502417
• MyVariant Identifiers: chr2:g.73677275A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450148A>C , CM000664.2:g.73450148A>C	GRCh38
NC_000002.11:g.73677275A>C , CM000664.1:g.73677275A>C	GRCh37
NC_000002.10:g.73530783A>C	NCBI36
NG_011690.1:g.69396A>C , LRG_741:g.69396A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3240A>C	ENSP00000507671.1:p.Pro1080=
ENST00000682801.1:c.3240A>C	ENSP00000507862.1:p.Pro1080=
ENST00000682859.1:c.3240A>C	ENSP00000508222.1:p.Pro1080=
ENST00000683791.1:c.685+17857A>C
ENST00000684460.1:c.692A>C
ENST00000684548.1:c.3240A>C	ENSP00000507421.1:p.Pro1080=
ENST00000684656.1:c.692A>C
ENST00000613296.6:c.3621A>C MANE Select	ENSP00000482968.1:p.Pro1207=
ENST00000484298.5:c.3495A>C	ENSP00000478155.1:p.Pro1165=
ENST00000613296.4:c.3621A>C	ENSP00000482968.1:p.Pro1207=
ENST00000614410.4:c.3621A>C	ENSP00000479094.1:p.Pro1207=
NM_015120.4:c.3624A>C , LRG_741t1:c.3624A>C	NP_055935.4:p.Pro1208=
NM_001378454.1:c.3621A>C MANE Select	NP_001365383.1:p.Pro1207=