Canonical Allele Identifier: CA342748563

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290654-A-G
• MyVariant Identifiers: chr1:g.155260445A>G (hg19) ; chr1:g.155290654A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290654A>G , CM000663.2:g.155290654A>G	GRCh38
NC_000001.10:g.155260445A>G , CM000663.1:g.155260445A>G	GRCh37
NC_000001.9:g.153527069A>G	NCBI36
NG_011677.1:g.15781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1643T>C MANE Select	ENSP00000339933.4:p.Val548Ala
ENST00000342741.4:c.1643T>C	ENSP00000339933.4:p.Val548Ala
ENST00000392414.7:c.1550T>C	ENSP00000376214.3:p.Val517Ala
NM_000298.5:c.1643T>C	NP_000289.1:p.Val548Ala
NM_181871.3:c.1550T>C	NP_870986.1:p.Val517Ala
XM_005245266.3:c.1802T>C	XP_005245323.1:p.Val601Ala
XM_006711386.2:c.1451T>C	XP_006711449.1:p.Val484Ala
XM_011509640.1:c.1451T>C	XP_011507942.1:p.Val484Ala
NM_000298.6:c.1643T>C MANE Select	NP_000289.1:p.Val548Ala
XM_006711386.4:c.1451T>C	XP_006711449.1:p.Val484Ala
XM_011509640.3:c.1451T>C	XP_011507942.1:p.Val484Ala
NM_181871.4:c.1550T>C	NP_870986.1:p.Val517Ala