Canonical Allele Identifier: CA427000731

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717090T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489963T>C , CM000664.2:g.73489963T>C	GRCh38
NC_000002.11:g.73717090T>C , CM000664.1:g.73717090T>C	GRCh37
NC_000002.10:g.73570598T>C	NCBI36
NG_011690.1:g.109211T>C , LRG_741:g.109211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7623T>C	ENSP00000507671.1:p.Leu2541=
ENST00000682801.1:c.7623T>C	ENSP00000507862.1:p.Leu2541=
ENST00000682859.1:c.7623T>C	ENSP00000508222.1:p.Leu2541=
ENST00000683791.1:c.1015T>C
ENST00000684460.1:c.5075T>C
ENST00000684548.1:c.7623T>C	ENSP00000507421.1:p.Leu2541=
ENST00000684590.1:c.2070T>C	ENSP00000507376.1:p.Leu690=
ENST00000684656.1:c.5075T>C
ENST00000613296.6:c.8004T>C MANE Select	ENSP00000482968.1:p.Leu2668=
ENST00000651434.1:c.896-29812T>C
ENST00000423048.5:c.2835T>C	ENSP00000399833.1:p.Leu945=
ENST00000484298.5:c.7878T>C	ENSP00000478155.1:p.Leu2626=
ENST00000613296.4:c.8004T>C	ENSP00000482968.1:p.Leu2668=
ENST00000614410.4:c.8004T>C	ENSP00000479094.1:p.Leu2668=
ENST00000620466.4:n.1807T>C
NM_015120.4:c.8007T>C , LRG_741t1:c.8007T>C	NP_055935.4:p.Leu2669=
NM_001378454.1:c.8004T>C MANE Select	NP_001365383.1:p.Leu2668=