Canonical Allele Identifier: CA347259459

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73419320T>C , CM000664.2:g.73419320T>C	GRCh38
NC_000002.11:g.73646448T>C , CM000664.1:g.73646448T>C	GRCh37
NC_000002.10:g.73499956T>C	NCBI36
NG_011690.1:g.38566T>C , LRG_741:g.38566T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.646+2T>C MANE Select	NP_001365383.1:n.646+2T>C
ENST00000613296.6:c.646+2T>C MANE Select	ENSP00000482968.1:n.646+2T>C
NM_015120.4:c.649+2T>C , LRG_741t1:c.649+2T>C	NP_055935.4:n.649+2T>C
ENST00000484298.5:c.520+2T>C	ENSP00000478155.1:n.520+2T>C
ENST00000613296.4:c.646+2T>C	ENSP00000482968.1:n.646+2T>C
ENST00000614410.4:c.646+2T>C	ENSP00000479094.1:n.646+2T>C
ENST00000682565.1:c.196+2T>C	ENSP00000507671.1:n.196+2T>C
ENST00000682675.1:n.606+2T>C
ENST00000682801.1:c.196+2T>C	ENSP00000507862.1:n.196+2T>C
ENST00000682859.1:c.196+2T>C	ENSP00000508222.1:n.196+2T>C
ENST00000682889.1:n.611+2T>C
ENST00000684148.1:n.394T>C
ENST00000684548.1:c.196+2T>C	ENSP00000507421.1:n.196+2T>C