Canonical Allele Identifier: CA347286922

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800022T>C (hg19) ; chr2:g.73572895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572895T>C , CM000664.2:g.73572895T>C	GRCh38
NC_000002.11:g.73800022T>C , CM000664.1:g.73800022T>C	GRCh37
NC_000002.10:g.73653530T>C	NCBI36
NG_011690.1:g.192143T>C , LRG_741:g.192143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10637T>C	ENSP00000507671.1:p.Leu3546Pro
ENST00000682801.1:c.10637T>C	ENSP00000507862.1:p.Leu3546Pro
ENST00000682859.1:c.10637T>C	ENSP00000508222.1:p.Leu3546Pro
ENST00000683791.1:c.3723T>C
ENST00000684460.1:c.7918T>C
ENST00000684548.1:c.10637T>C	ENSP00000507421.1:p.Leu3546Pro
ENST00000684590.1:c.5084T>C	ENSP00000507376.1:p.Leu1695Pro
ENST00000684656.1:c.7963T>C
ENST00000613296.6:c.11018T>C MANE Select	ENSP00000482968.1:p.Leu3673Pro
ENST00000651057.1:c.1172T>C	ENSP00000498504.1:p.Leu391Pro
ENST00000651434.1:c.2374T>C
ENST00000651750.1:c.406T>C
ENST00000652487.1:c.2115T>C
ENST00000423048.5:c.4509T>C	ENSP00000399833.1:n.4509T>C
ENST00000484298.5:c.10892T>C	ENSP00000478155.1:p.Leu3631Pro
ENST00000613296.4:c.11018T>C	ENSP00000482968.1:p.Leu3673Pro
ENST00000614410.4:c.11018T>C	ENSP00000479094.1:p.Leu3673Pro
ENST00000620466.4:n.4821T>C
NM_015120.4:c.11021T>C , LRG_741t1:c.11021T>C	NP_055935.4:p.Leu3674Pro
NM_001378454.1:c.11018T>C MANE Select	NP_001365383.1:p.Leu3673Pro