Canonical Allele Identifier: CA8873559
Community Standard Title: NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser)
Gene: LPIN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.2951223A>G , CM000680.2:g.2951223A>G GRCh38
NC_000018.9:g.2951221A>G , CM000680.1:g.2951221A>G GRCh37
NC_000018.8:g.2941221A>G NCBI36
NG_007507.1:g.65725T>C , LRG_174:g.65725T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001375808.2:c.422T>C MANE Select NP_001362737.1:p.Leu141Ser
ENST00000677752.1:c.422T>C MANE Select ENSP00000504857.1:p.Leu141Ser
NM_001375808.1:c.422T>C NP_001362737.1:p.Leu141Ser
NM_001375809.1:c.422T>C NP_001362738.1:p.Leu141Ser
NM_014646.2:c.422T>C , LRG_174t1:c.422T>C NP_055461.1:p.Leu141Ser
ENST00000261596.8:c.422T>C ENSP00000261596.4:p.Leu141Ser
ENST00000261596.9:c.422T>C ENSP00000261596.4:p.Leu141Ser
ENST00000584294.1:c.422T>C ENSP00000463026.1:p.Leu141Ser
ENST00000584915.2:c.533T>C ENSP00000463810.2:p.Leu178Ser
ENST00000697039.1:c.422T>C ENSP00000513061.1:p.Leu141Ser
ENST00000697040.1:c.422T>C ENSP00000513062.1:p.Leu141Ser
ENST00000697042.1:c.422T>C ENSP00000513064.1:p.Leu141Ser
ENST00000697043.1:c.422T>C ENSP00000513065.1:p.Leu141Ser
XM_005258177.3:c.533T>C XP_005258234.1:p.Leu178Ser
XM_005258177.4:c.533T>C XP_005258234.1:p.Leu178Ser
XM_005258178.2:c.422T>C XP_005258235.1:p.Leu141Ser
XM_005258178.3:c.422T>C XP_005258235.1:p.Leu141Ser
XM_005258179.3:c.422T>C XP_005258236.1:p.Leu141Ser
XM_005258179.5:c.422T>C XP_005258236.1:p.Leu141Ser
XM_017026098.1:c.422T>C XP_016881587.1:p.Leu141Ser
XM_017026099.1:c.422T>C XP_016881588.1:p.Leu141Ser
XR_935074.1:n.551T>C
XR_935074.2:n.596T>C