Canonical Allele Identifier: CA8842981

Gene: P4HB

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81855534C>T , CM000679.2:g.81855534C>T	GRCh38
NC_000017.10:g.79813410C>T , CM000679.1:g.79813410C>T	GRCh37
NC_000017.9:g.77406699C>T	NCBI36
NG_042033.1:g.10135G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000918.4:c.405G>A MANE Select	NP_000909.2:p.Pro135=
ENST00000331483.9:c.405G>A MANE Select	ENSP00000327801.4:p.Pro135=
NM_000918.3:c.405G>A	NP_000909.2:p.Pro135=
ENST00000331483.8:c.405G>A	ENSP00000327801.4:p.Pro135=
ENST00000415593.6:c.354+3645G>A	ENSP00000388117.2:n.354+3645G>A
ENST00000439918.6:c.355-255G>A	ENSP00000388374.2:n.355-255G>A
ENST00000439918.7:c.355-255G>A	ENSP00000388374.2:n.355-255G>A
ENST00000466567.3:n.5016G>A
ENST00000467086.5:n.653G>A
ENST00000467086.6:n.1018G>A
ENST00000471535.2:n.441-255G>A
ENST00000472244.5:n.288G>A
ENST00000472244.6:n.435G>A
ENST00000477607.6:n.477G>A
ENST00000477607.7:n.597G>A
ENST00000570907.5:c.33+3647G>A	ENSP00000461362.1:n.33+3647G>A
ENST00000570907.6:c.405G>A	ENSP00000461362.2:p.Pro135=
ENST00000571617.1:c.243+3756G>A	ENSP00000458300.1:n.243+3756G>A
ENST00000571617.2:c.405G>A	ENSP00000458300.2:p.Pro135=
ENST00000573778.6:c.198G>A	ENSP00000460088.2:p.Pro66=
ENST00000573778.7:c.*220G>A	ENSP00000460088.3:n.*220G>A
ENST00000574007.5:n.603G>A
ENST00000574007.6:n.1067G>A
ENST00000574914.1:c.297G>A	ENSP00000460612.1:p.Pro99=
ENST00000574914.2:c.297G>A	ENSP00000460612.2:p.Pro99=
ENST00000575069.5:c.*220G>A	ENSP00000459211.1:n.*220G>A
ENST00000575069.6:c.*220G>A	ENSP00000459211.1:n.*220G>A
ENST00000576052.1:c.354+3645G>A	ENSP00000461791.1:n.354+3645G>A
ENST00000576052.2:c.352+3647G>A	ENSP00000461791.2:n.352+3647G>A
ENST00000576380.5:c.34-255G>A	ENSP00000460285.1:n.34-255G>A
ENST00000576380.6:c.*168-255G>A	ENSP00000460285.2:n.*168-255G>A
ENST00000576390.5:c.233+3766G>A	ENSP00000461718.1:n.233+3766G>A
ENST00000576390.6:c.405G>A	ENSP00000461718.2:p.Pro135=
ENST00000576541.1:c.353-29G>A	ENSP00000460741.1:n.353-29G>A
ENST00000576541.2:c.*264G>A	ENSP00000460741.2:n.*264G>A
ENST00000679366.1:c.405G>A	ENSP00000506375.1:p.Pro135=
ENST00000679396.1:n.532G>A
ENST00000679439.1:c.405G>A	ENSP00000505377.1:p.Pro135=
ENST00000679455.1:c.*220G>A	ENSP00000505971.1:n.*220G>A
ENST00000679470.1:n.492G>A
ENST00000679628.1:n.1394G>A
ENST00000679688.1:c.*26G>A	ENSP00000505272.1:n.*26G>A
ENST00000679889.1:c.507G>A	ENSP00000506718.1:p.Pro169=
ENST00000680076.1:n.503G>A
ENST00000680083.1:c.*139G>A	ENSP00000505575.1:n.*139G>A
ENST00000680105.1:c.353-255G>A	ENSP00000506284.1:n.353-255G>A
ENST00000680191.1:c.480G>A	ENSP00000506544.1:p.Pro160=
ENST00000680208.1:n.509G>A
ENST00000680226.1:c.405G>A	ENSP00000505635.1:p.Pro135=
ENST00000680259.1:c.*906G>A	ENSP00000504869.1:n.*906G>A
ENST00000680368.1:n.1924G>A
ENST00000680400.1:c.-565G>A	ENSP00000505382.1:n.-565G>A
ENST00000680416.1:c.*704G>A	ENSP00000506306.1:n.*704G>A
ENST00000680547.1:n.1106G>A
ENST00000680559.1:n.1393G>A
ENST00000680593.1:c.405G>A	ENSP00000505754.1:p.Pro135=
ENST00000680719.1:n.591G>A
ENST00000680732.1:c.353-255G>A	ENSP00000505727.1:n.353-255G>A
ENST00000680799.1:n.454G>A
ENST00000680838.1:n.1096G>A
ENST00000680846.1:c.*26G>A	ENSP00000506612.1:n.*26G>A
ENST00000680847.1:c.405G>A	ENSP00000506451.1:p.Pro135=
ENST00000680884.1:c.507G>A	ENSP00000505953.1:p.Pro169=
ENST00000680909.1:c.*732G>A	ENSP00000505545.1:n.*732G>A
ENST00000680914.1:c.405G>A	ENSP00000505149.1:p.Pro135=
ENST00000681020.1:c.405G>A	ENSP00000506014.1:p.Pro135=
ENST00000681030.1:c.*658G>A	ENSP00000505707.1:n.*658G>A
ENST00000681031.1:c.*194G>A	ENSP00000505466.1:n.*194G>A
ENST00000681068.1:n.917G>A
ENST00000681161.1:c.198G>A	ENSP00000505659.1:p.Pro66=
ENST00000681420.1:c.405G>A	ENSP00000505993.1:p.Pro135=
ENST00000681485.1:n.642G>A
ENST00000681515.1:c.146-255G>A	ENSP00000505872.1:n.146-255G>A
ENST00000681566.1:c.405G>A	ENSP00000506218.1:p.Pro135=
ENST00000681571.1:n.1162G>A
ENST00000681614.1:n.626G>A
ENST00000681693.1:c.353-29G>A	ENSP00000505096.1:n.353-29G>A
ENST00000681760.1:c.*220G>A	ENSP00000506555.1:n.*220G>A
ENST00000681835.1:n.1578G>A
ENST00000681872.1:n.774-255G>A
ENST00000681933.1:c.*222G>A	ENSP00000504864.1:n.*222G>A
ENST00000681954.1:n.964G>A
XM_024450777.1:c.405G>A	XP_024306545.1:p.Pro135=
XR_002958014.1:n.469G>A