Canonical Allele Identifier: CA421245775

Gene: PKLR

Linked Data

• dbSNP Id: rs1438029448
• gnomAD v2: 1-155265285-G-C
• gnomAD v4: 1-155295494-G-C
• MyVariant Identifiers: chr1:g.155265285G>C (hg19) ; chr1:g.155295494G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295494G>C , CM000663.2:g.155295494G>C	GRCh38
NC_000001.10:g.155265285G>C , CM000663.1:g.155265285G>C	GRCh37
NC_000001.9:g.153531909G>C	NCBI36
NG_011677.1:g.10941C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.450C>G MANE Select	ENSP00000339933.4:p.Pro150=
ENST00000434082.3:c.258C>G	ENSP00000398037.3:p.Pro86=
ENST00000342741.4:c.450C>G	ENSP00000339933.4:p.Pro150=
ENST00000392414.7:c.357C>G	ENSP00000376214.3:p.Pro119=
ENST00000434082.2:c.355C>G	ENSP00000398037.2:n.355C>G
NM_000298.5:c.450C>G	NP_000289.1:p.Pro150=
NM_181871.3:c.357C>G	NP_870986.1:p.Pro119=
XM_005245266.3:c.609C>G	XP_005245323.1:p.Pro203=
XM_006711386.2:c.258C>G	XP_006711449.1:p.Pro86=
XM_011509639.1:c.609C>G	XP_011507941.1:p.Pro203=
XM_011509640.1:c.258C>G	XP_011507942.1:p.Pro86=
NM_000298.6:c.450C>G MANE Select	NP_000289.1:p.Pro150=
XM_006711386.4:c.258C>G	XP_006711449.1:p.Pro86=
XM_011509640.3:c.258C>G	XP_011507942.1:p.Pro86=
XM_017001493.1:c.450C>G	XP_016856982.1:p.Pro150=
NM_181871.4:c.357C>G	NP_870986.1:p.Pro119=