Canonical Allele Identifier: CA50396469

Gene: ALMS1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451748G>C , CM000664.2:g.73451748G>C	GRCh38
NC_000002.11:g.73678875G>C , CM000664.1:g.73678875G>C	GRCh37
NC_000002.10:g.73532383G>C	NCBI36
NG_011690.1:g.70996G>C , LRG_741:g.70996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.4840G>C	ENSP00000507671.1:p.Val1614Leu
ENST00000682801.1:c.4840G>C	ENSP00000507862.1:p.Val1614Leu
ENST00000682859.1:c.4840G>C	ENSP00000508222.1:p.Val1614Leu
ENST00000683791.1:c.685+19457G>C
ENST00000684197.1:n.190G>C
ENST00000684460.1:c.2292G>C
ENST00000684548.1:c.4840G>C	ENSP00000507421.1:p.Val1614Leu
ENST00000684656.1:c.2292G>C
ENST00000613296.6:c.5221G>C MANE Select	ENSP00000482968.1:p.Val1741Leu
ENST00000423048.5:c.52G>C	ENSP00000399833.1:p.Val18Leu
ENST00000484298.5:c.5095G>C	ENSP00000478155.1:p.Val1699Leu
ENST00000613296.4:c.5221G>C	ENSP00000482968.1:p.Val1741Leu
ENST00000614410.4:c.5221G>C	ENSP00000479094.1:p.Val1741Leu
NM_015120.4:c.5224G>C , LRG_741t1:c.5224G>C	NP_055935.4:p.Val1742Leu
NM_001378454.1:c.5221G>C MANE Select	NP_001365383.1:p.Val1741Leu