Canonical Allele Identifier: CA366015828

Gene: PCMT1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.149793609G>C , CM000668.2:g.149793609G>C	GRCh38
NC_000006.11:g.150114745G>C , CM000668.1:g.150114745G>C	GRCh37
NC_000006.10:g.150156438G>C	NCBI36
NG_033960.1:g.48915G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367384.8:c.358G>C	ENSP00000356354.3:p.Val120Leu
ENST00000464889.7:c.358G>C MANE Select	ENSP00000420813.2:p.Val120Leu
ENST00000367378.6:c.358G>C	ENSP00000356348.2:p.Val120Leu
ENST00000367384.7:c.358G>C	ENSP00000356354.3:p.Val120Leu
ENST00000464889.6:c.358G>C	ENSP00000420813.2:p.Val120Leu
ENST00000484601.6:c.*357G>C	ENSP00000417448.2:n.*357G>C
ENST00000486585.2:c.*538G>C	ENSP00000418461.2:n.*538G>C
ENST00000649295.1:c.532G>C	ENSP00000497235.1:p.Val178Leu
ENST00000367378.5:c.532G>C	ENSP00000356348.1:p.Val178Leu
ENST00000367380.9:c.427G>C	ENSP00000356350.6:p.Val143Leu
ENST00000367384.6:c.532G>C	ENSP00000356354.2:p.Val178Leu
ENST00000464889.5:c.532G>C	ENSP00000420813.1:p.Val178Leu
ENST00000484601.5:c.*357G>C	ENSP00000417448.1:n.*357G>C
ENST00000486585.1:c.741G>C
ENST00000495487.1:c.265G>C	ENSP00000418881.1:p.Val89Leu
ENST00000544496.5:c.427G>C	ENSP00000438247.2:p.Val143Leu
NM_001252049.1:c.532G>C	NP_001238978.1:p.Val178Leu
NM_001252050.1:c.427G>C	NP_001238979.1:p.Val143Leu
NM_001252051.1:c.427G>C	NP_001238980.1:p.Val143Leu
NM_001252052.1:c.427G>C	NP_001238981.1:p.Val143Leu
NM_001252053.1:c.532G>C	NP_001238982.1:p.Val178Leu
NM_005389.2:c.532G>C	NP_005380.2:p.Val178Leu
XM_011535868.1:c.343G>C	XP_011534170.1:p.Val115Leu
NM_001360452.1:c.358G>C	NP_001347381.1:p.Val120Leu
NM_001360456.1:c.358G>C	NP_001347385.1:p.Val120Leu
XM_011535868.2:c.343G>C	XP_011534170.1:p.Val115Leu
XM_024446451.1:c.343G>C	XP_024302219.1:p.Val115Leu
NM_001360452.2:c.358G>C MANE Select	NP_001347381.1:p.Val120Leu