Canonical Allele Identifier: CA10739804

Gene: PMF1-BGLAP PMF1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156227589C>T , CM000663.2:g.156227589C>T	GRCh38
NC_000001.10:g.156197380C>T , CM000663.1:g.156197380C>T	GRCh37
NC_000001.9:g.154464004C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320139.5:c.162-4731C>T (PMF1-BGLAP)	ENSP00000324909.5:n.162-4731C>T
ENST00000368273.8:c.273+1921C>T (PMF1)	ENSP00000357256.4:n.273+1921C>T
ENST00000368276.8:c.162-4731C>T (PMF1-BGLAP)	ENSP00000357259.4:n.162-4731C>T
ENST00000368277.3:c.162-4731C>T (PMF1) MANE Select	ENSP00000357260.3:n.162-4731C>T
ENST00000368279.7:c.162-4731C>T (PMF1)	ENSP00000357262.3:n.162-4731C>T
ENST00000466489.1:c.*527+1921C>T (PMF1)	ENSP00000476770.1:n.*527+1921C>T
ENST00000490491.5:c.162-4731C>T (PMF1-BGLAP)	ENSP00000475561.1:n.162-4731C>T
ENST00000497069.2:c.263+1921C>T (PMF1)
ENST00000567140.3:c.162-8699C>T (PMF1-BGLAP)	ENSP00000458021.2:n.162-8699C>T
ENST00000606952.5:n.171-6039C>T (PMF1)
NM_001199653.1:c.162-4731C>T (PMF1)	NP_001186582.1:n.162-4731C>T
NM_001199654.1:c.273+1921C>T (PMF1)	NP_001186583.1:n.273+1921C>T
NM_001199661.1:c.162-4731C>T (PMF1-BGLAP)	NP_001186590.1:n.162-4731C>T
NM_001199662.1:c.162-4731C>T (PMF1-BGLAP)	NP_001186591.1:n.162-4731C>T
NM_001199663.1:c.162-4731C>T (PMF1-BGLAP)	NP_001186592.1:n.162-4731C>T
NM_001199664.1:c.162-8699C>T (PMF1-BGLAP)	NP_001186593.1:n.162-8699C>T
NM_007221.3:c.162-4731C>T (PMF1)	NP_009152.2:n.162-4731C>T
NM_001199653.2:c.162-4731C>T (PMF1)	NP_001186582.1:n.162-4731C>T
NM_001199654.2:c.273+1921C>T (PMF1)	NP_001186583.1:n.273+1921C>T
NM_001393909.1:c.162-4731C>T (PMF1)	NP_001380838.1:n.162-4731C>T
NM_001393910.1:c.273+1921C>T (PMF1)	NP_001380839.1:n.273+1921C>T
NM_001393911.1:c.162-4731C>T (PMF1)	NP_001380840.1:n.162-4731C>T
NM_001393912.1:c.162-4731C>T (PMF1)	NP_001380841.1:n.162-4731C>T
NM_001393913.1:c.162-4731C>T (PMF1)	NP_001380842.1:n.162-4731C>T
NM_001393914.1:c.162-8699C>T (PMF1)	NP_001380843.1:n.162-8699C>T
NM_001393915.1:c.162-8760C>T (PMF1)	NP_001380844.1:n.162-8760C>T
NM_007221.4:c.162-4731C>T (PMF1) MANE Select	NP_009152.2:n.162-4731C>T