Canonical Allele Identifier: CA412841995

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48369761T>C (hg19) ; chrX:g.48511373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511373T>C , CM000685.2:g.48511373T>C	GRCh38
NC_000023.10:g.48369761T>C , CM000685.1:g.48369761T>C	GRCh37
NC_000023.9:g.48254705T>C	NCBI36
NG_009278.1:g.7391T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.215T>C	ENSP00000356546.6:p.Met72Thr
ENST00000537758.6:c.215T>C	ENSP00000446401.3:p.Met72Thr
ENST00000682661.1:n.374T>C
ENST00000683923.1:c.215T>C	ENSP00000506737.1:p.Met72Thr
ENST00000684722.1:n.397T>C
ENST00000326194.11:c.215T>C MANE Select	ENSP00000322304.6:p.Met72Thr
ENST00000485288.7:c.144T>C	ENSP00000420445.3:p.His48=
ENST00000326194.10:c.215T>C	ENSP00000322304.6:p.Met72Thr
ENST00000355092.4:c.80T>C	ENSP00000347207.4:p.Met27Thr
ENST00000355961.8:c.215T>C	ENSP00000348233.4:p.Met72Thr
ENST00000359882.8:c.215T>C	ENSP00000352946.4:p.Met72Thr
ENST00000361988.7:c.215T>C	ENSP00000354978.3:p.Met72Thr
ENST00000367574.8:c.215T>C	ENSP00000356546.5:p.Met72Thr
ENST00000470275.2:c.144T>C	ENSP00000418644.2:p.His48=
ENST00000472520.5:c.137-519T>C	ENSP00000419858.1:n.137-519T>C
ENST00000485288.6:c.336T>C	ENSP00000420445.2:p.His112=
ENST00000486272.1:n.565T>C
ENST00000489940.5:c.215T>C	ENSP00000419212.1:p.Met72Thr
ENST00000491243.5:n.254T>C
ENST00000528612.5:c.144T>C	ENSP00000431224.1:p.His48=
ENST00000537758.5:c.215T>C	ENSP00000446401.2:p.Met72Thr
NM_001282167.1:c.2T>C	NP_001269096.1:p.Met1Thr
NM_022825.3:c.215T>C	NP_073736.2:p.Met72Thr
NM_203473.2:c.215T>C	NP_982299.1:p.Met72Thr
NM_203474.1:c.215T>C	NP_982300.1:p.Met72Thr
NM_203475.2:c.215T>C	NP_982301.1:p.Met72Thr
XM_005272635.1:c.554T>C	XP_005272692.1:p.Met185Thr
XM_005272636.1:c.554T>C	XP_005272693.1:p.Met185Thr
XM_005272637.1:c.467T>C	XP_005272694.1:p.Met156Thr
XM_006724544.2:c.320T>C	XP_006724607.1:p.Met107Thr
XM_006724545.2:c.266T>C	XP_006724608.1:p.Met89Thr
XM_006724546.2:c.215T>C	XP_006724609.1:p.Met72Thr
XM_006724547.1:c.2T>C	XP_006724610.1:p.Met1Thr
XM_011543948.1:c.2T>C	XP_011542250.1:p.Met1Thr
XM_024452425.1:c.554T>C	XP_024308193.1:p.Met185Thr
NM_001282167.2:c.2T>C	NP_001269096.1:p.Met1Thr
NM_022825.4:c.215T>C	NP_073736.2:p.Met72Thr
NM_203473.3:c.215T>C	NP_982299.1:p.Met72Thr
NM_203475.3:c.215T>C MANE Select	NP_982301.1:p.Met72Thr