Canonical Allele Identifier: CA1714156

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453477T>C , CM000664.2:g.73453477T>C	GRCh38
NC_000002.11:g.73680604T>C , CM000664.1:g.73680604T>C	GRCh37
NC_000002.10:g.73534112T>C	NCBI36
NG_011690.1:g.72725T>C , LRG_741:g.72725T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6950T>C MANE Select	NP_001365383.1:p.Leu2317Pro
ENST00000613296.6:c.6950T>C MANE Select	ENSP00000482968.1:p.Leu2317Pro
NM_015120.4:c.6953T>C , LRG_741t1:c.6953T>C	NP_055935.4:p.Leu2318Pro
ENST00000423048.5:c.1781T>C	ENSP00000399833.1:p.Leu594Pro
ENST00000484298.5:c.6824T>C	ENSP00000478155.1:p.Leu2275Pro
ENST00000613296.4:c.6950T>C	ENSP00000482968.1:p.Leu2317Pro
ENST00000614410.4:c.6950T>C	ENSP00000479094.1:p.Leu2317Pro
ENST00000620466.4:n.753T>C
ENST00000651434.1:c.171T>C
ENST00000682565.1:c.6569T>C	ENSP00000507671.1:p.Leu2190Pro
ENST00000682801.1:c.6569T>C	ENSP00000507862.1:p.Leu2190Pro
ENST00000682859.1:c.6569T>C	ENSP00000508222.1:p.Leu2190Pro
ENST00000683791.1:c.685+21186T>C
ENST00000684197.1:n.1919T>C
ENST00000684460.1:c.4021T>C
ENST00000684548.1:c.6569T>C	ENSP00000507421.1:p.Leu2190Pro
ENST00000684590.1:c.1067T>C	ENSP00000507376.1:p.Leu356Pro
ENST00000684656.1:c.4021T>C