Canonical Allele Identifier: CA342754452

Gene: PKLR

Linked Data

• dbSNP Id: rs1186641890
• gnomAD v2: 1-155264456-A-C
• gnomAD v3: 1-155294665-A-C
• gnomAD v4: 1-155294665-A-C
• MyVariant Identifiers: chr1:g.155264456A>C (hg19) ; chr1:g.155294665A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294665A>C , CM000663.2:g.155294665A>C	GRCh38
NC_000001.10:g.155264456A>C , CM000663.1:g.155264456A>C	GRCh37
NC_000001.9:g.153531080A>C	NCBI36
NG_011677.1:g.11770T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.782T>G MANE Select	ENSP00000339933.4:p.Leu261Trp
ENST00000342741.4:c.782T>G	ENSP00000339933.4:p.Leu261Trp
ENST00000392414.7:c.689T>G	ENSP00000376214.3:p.Leu230Trp
NM_000298.5:c.782T>G	NP_000289.1:p.Leu261Trp
NM_181871.3:c.689T>G	NP_870986.1:p.Leu230Trp
XM_005245266.3:c.941T>G	XP_005245323.1:p.Leu314Trp
XM_006711386.2:c.590T>G	XP_006711449.1:p.Leu197Trp
XM_011509639.1:c.941T>G	XP_011507941.1:p.Leu314Trp
XM_011509640.1:c.590T>G	XP_011507942.1:p.Leu197Trp
NM_000298.6:c.782T>G MANE Select	NP_000289.1:p.Leu261Trp
XM_006711386.4:c.590T>G	XP_006711449.1:p.Leu197Trp
XM_011509640.3:c.590T>G	XP_011507942.1:p.Leu197Trp
XM_017001493.1:c.782T>G	XP_016856982.1:p.Leu261Trp
NM_181871.4:c.689T>G	NP_870986.1:p.Leu230Trp