Canonical Allele Identifier: CA5940383
Gene: KIAA1549L HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.33646010A>G
GRCh37 chr11:g.33667556A>G
Revel Score:
ENST00000321505 0.166
ENST00000389726 0.166
ENST00000536568 0.166
gnomAD v2:
11:33667556 A / G
gnomAD v3:
11:33646010 A / G
gnomAD v4:
chr11-33646010-A-G
Joint Max Group AF 0.00011978 (AMR)
Genomes Max Group AF 0.00008878 (AMR)
Exomes Max Group AF 0.00009405 (AMR)
ClinVar RCV:
RCV004085793
ClinVar Variation:
2219893
dbSNP:
202016116
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.33646010A>G , CM000673.2:g.33646010A>G GRCh38
NC_000011.9:g.33667556A>G , CM000673.1:g.33667556A>G GRCh37
NC_000011.8:g.33624132A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000526400.7:c.3544A>G ENSP00000433481.3:p.Met1182Val
ENST00000321505.9:c.4843A>G ENSP00000315295.4:p.Met1615Val
ENST00000658780.2:c.5734A>G MANE Select ENSP00000499430.1:p.Met1912Val
ENST00000321505.8:c.4843A>G ENSP00000315295.4:p.Met1615Val
NM_012194.2:c.4843A>G NP_036326.2:p.Met1615Val
XM_005252847.2:c.4978A>G XP_005252904.2:p.Met1660Val
XM_005252848.2:c.4858A>G XP_005252905.1:p.Met1620Val
XM_011519970.1:c.3544A>G XP_011518272.1:p.Met1182Val
XM_005252847.3:c.4978A>G XP_005252904.2:p.Met1660Val
XM_005252848.3:c.4858A>G XP_005252905.1:p.Met1620Val
XM_011519970.2:c.3544A>G XP_011518272.1:p.Met1182Val
XM_017017484.2:c.4861A>G XP_016872973.1:p.Met1621Val
XM_017017486.1:c.3541A>G XP_016872975.1:p.Met1181Val
NM_012194.3:c.5734A>G MANE Select NP_036326.3:p.Met1912Val
Search 100 bp 5'
Search 100 bp 3'