Canonical Allele Identifier: CA421024278

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155269986T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155300195T>G , CM000663.2:g.155300195T>G	GRCh38
NC_000001.10:g.155269986T>G , CM000663.1:g.155269986T>G	GRCh37
NC_000001.9:g.153536610T>G	NCBI36
NG_011677.1:g.6240A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.186A>C MANE Select	ENSP00000339933.4:p.Pro62=
ENST00000434082.3:c.-7A>C	ENSP00000398037.3:n.-7A>C
ENST00000342741.4:c.186A>C	ENSP00000339933.4:p.Pro62=
ENST00000392414.7:c.93A>C	ENSP00000376214.3:p.Pro31=
ENST00000434082.2:c.91A>C	ENSP00000398037.2:p.Ser31Arg
NM_000298.5:c.186A>C	NP_000289.1:p.Pro62=
NM_181871.3:c.93A>C	NP_870986.1:p.Pro31=
XM_005245266.3:c.345A>C	XP_005245323.1:p.Pro115=
XM_006711386.2:c.-7A>C	XP_006711449.1:n.-7A>C
XM_011509639.1:c.345A>C	XP_011507941.1:p.Pro115=
XM_011509640.1:c.-7A>C	XP_011507942.1:n.-7A>C
NM_000298.6:c.186A>C MANE Select	NP_000289.1:p.Pro62=
XM_006711386.4:c.-7A>C	XP_006711449.1:n.-7A>C
XM_011509640.3:c.-7A>C	XP_011507942.1:n.-7A>C
XM_017001493.1:c.186A>C	XP_016856982.1:p.Pro62=
NM_181871.4:c.93A>C	NP_870986.1:p.Pro31=