Canonical Allele Identifier: CA252588736

Gene: PIBF1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72965350A>C , CM000675.2:g.72965350A>C	GRCh38
NC_000013.10:g.73539488A>C , CM000675.1:g.73539488A>C	GRCh37
NC_000013.9:g.72437489A>C	NCBI36
NG_053118.1:g.188327A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326291.11:c.1910A>C MANE Select	ENSP00000317144.6:p.Asp637Ala
ENST00000326291.10:c.1910A>C	ENSP00000317144.6:p.Asp637Ala
ENST00000615625.1:c.287A>C	ENSP00000483286.1:p.Asp96Ala
ENST00000617689.4:c.1910A>C	ENSP00000478697.1:p.Asp637Ala
NM_006346.2:c.1910A>C	NP_006337.2:p.Asp637Ala
XM_011534881.1:c.1997A>C	XP_011533183.1:p.Asp666Ala
XM_011534882.1:c.1921-33472A>C	XP_011533184.1:n.1921-33472A>C
XM_011534883.1:c.*77A>C	XP_011533185.1:n.*77A>C
XM_011534885.1:c.1628A>C	XP_011533187.1:p.Asp543Ala
XR_941461.1:n.2147A>C
NM_001349655.1:c.1997A>C	NP_001336584.1:p.Asp666Ala
NM_006346.3:c.1910A>C	NP_006337.2:p.Asp637Ala
NR_146205.1:n.2307A>C
NR_146206.1:n.2307A>C
XM_011534882.3:c.1921-33472A>C	XP_011533184.1:n.1921-33472A>C
XM_011534885.3:c.1628A>C	XP_011533187.1:p.Asp543Ala
XM_017020350.2:c.1541A>C	XP_016875839.1:p.Asp514Ala
XM_017020352.2:c.794A>C	XP_016875841.1:p.Asp265Ala
XM_017020354.2:c.707A>C	XP_016875843.1:p.Asp236Ala
XM_024449314.1:c.1834-33472A>C	XP_024305082.1:n.1834-33472A>C
XR_001749456.2:n.2339A>C
XR_001749457.2:n.2174A>C
XR_001749458.2:n.2261A>C
XR_001749459.2:n.2261A>C
XR_001749460.2:n.2008A>C
XR_002957449.1:n.2293A>C
XR_941461.3:n.2261A>C
NM_006346.4:c.1910A>C MANE Select	NP_006337.2:p.Asp637Ala
NM_001349655.2:c.1997A>C	NP_001336584.1:p.Asp666Ala
NR_146205.2:n.2197A>C
NR_146206.2:n.2197A>C