Canonical Allele Identifier: CA484534581

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101167695C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515441C>A , CM000675.2:g.100515441C>A	GRCh38
NC_000013.10:g.101167695C>A , CM000675.1:g.101167695C>A	GRCh37
NC_000013.9:g.99965696C>A	NCBI36
NG_008768.1:g.431359C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.1914C>A MANE Select	ENSP00000365462.1:p.Ile638=
ENST00000636366.1:c.1112C>A
ENST00000636475.1:c.1429C>A
ENST00000637657.1:c.1574C>A
ENST00000647303.1:c.*1398C>A	ENSP00000495663.1:n.*1398C>A
ENST00000376279.7:c.1900-12234C>A	ENSP00000365456.3:n.1900-12234C>A
ENST00000376285.5:c.1914C>A	ENSP00000365462.1:p.Ile638=
ENST00000376286.8:c.1836C>A	ENSP00000365463.4:p.Ile612=
ENST00000428969.1:c.15C>A	ENSP00000399413.1:p.Ile5=
ENST00000458283.5:c.257-12234C>A
NM_000282.3:c.1914C>A	NP_000273.2:p.Ile638=
NM_001127692.2:c.1836C>A	NP_001121164.1:p.Ile612=
NM_001178004.1:c.1900-12234C>A	NP_001171475.1:n.1900-12234C>A
XR_931615.1:n.1898-12234C>A
NM_001352605.1:c.1860C>A	NP_001339534.1:p.Ile620=
NM_001352606.1:c.1770C>A	NP_001339535.1:p.Ile590=
NM_001352607.1:c.1822-12234C>A	NP_001339536.1:n.1822-12234C>A
NM_001352608.1:c.1692C>A	NP_001339537.1:p.Ile564=
NM_001352610.1:c.969C>A	NP_001339539.1:p.Ile323=
NM_001352611.1:c.915C>A	NP_001339540.1:p.Ile305=
NM_001352612.1:c.825C>A	NP_001339541.1:p.Ile275=
NR_148027.1:n.2090-12234C>A
NR_148028.1:n.2001C>A
NR_148029.1:n.1923C>A
NR_148030.1:n.2104C>A
NR_148031.1:n.1917C>A
XM_017020609.1:c.1815C>A	XP_016876098.1:p.Ile605=
XM_017020612.1:c.1993C>A	XP_016876101.1:p.Leu665Ile
XM_017020613.1:c.1979-12234C>A	XP_016876102.1:n.1979-12234C>A
XR_001749567.1:n.2094C>A
XR_001749568.1:n.2181C>A
XR_001749569.1:n.2167-12234C>A
XR_001749574.1:n.1950C>A
XR_001749576.1:n.1651C>A
XR_001749577.1:n.1548C>A
NM_000282.4:c.1914C>A MANE Select	NP_000273.2:p.Ile638=
NM_001352605.2:c.1860C>A	NP_001339534.1:p.Ile620=
NM_001352606.2:c.1770C>A	NP_001339535.1:p.Ile590=
NM_001352607.2:c.1822-12234C>A	NP_001339536.1:n.1822-12234C>A
NM_001352608.2:c.1692C>A	NP_001339537.1:p.Ile564=
NM_001352610.2:c.969C>A	NP_001339539.1:p.Ile323=
NM_001352611.2:c.915C>A	NP_001339540.1:p.Ile305=
NM_001352612.2:c.825C>A	NP_001339541.1:p.Ile275=
NR_148027.2:n.2012-12234C>A
NR_148028.2:n.1923C>A
NR_148029.2:n.1845C>A
NR_148030.2:n.2026C>A
NR_148031.2:n.1839C>A
NM_001127692.3:c.1836C>A	NP_001121164.1:p.Ile612=
NM_001178004.2:c.1900-12234C>A	NP_001171475.1:n.1900-12234C>A