Canonical Allele Identifier: CA348399015

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128180661G>C (hg19) ; chr2:g.127423085G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423085G>C , CM000664.2:g.127423085G>C	GRCh38
NC_000002.11:g.128180661G>C , CM000664.1:g.128180661G>C	GRCh37
NC_000002.10:g.127897131G>C	NCBI36
NG_016323.1:g.9666G>C , LRG_599:g.9666G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.314G>C MANE Select	ENSP00000234071.4:p.Cys105Ser
ENST00000234071.7:c.314G>C	ENSP00000234071.3:p.Cys105Ser
ENST00000409048.1:c.314G>C	ENSP00000386679.1:p.Cys105Ser
ENST00000419985.5:c.*120G>C	ENSP00000392606.1:n.*120G>C
ENST00000427769.5:c.314G>C	ENSP00000406295.1:p.Cys105Ser
ENST00000429925.5:c.314G>C	ENSP00000412697.1:p.Cys105Ser
ENST00000431364.1:c.*120G>C	ENSP00000391220.1:n.*120G>C
ENST00000442644.5:c.314G>C	ENSP00000411241.1:p.Cys105Ser
ENST00000474030.5:n.489G>C
NM_000312.3:c.314G>C , LRG_599t1:c.314G>C	NP_000303.1:p.Cys105Ser
XM_005263715.3:c.497G>C	XP_005263772.1:p.Cys166Ser
XM_005263716.3:c.377G>C	XP_005263773.1:p.Cys126Ser
XM_005263717.3:c.377G>C	XP_005263774.1:p.Cys126Ser
XM_005263717.4:c.377G>C	XP_005263774.1:p.Cys126Ser
XM_017004505.1:c.557G>C	XP_016859994.1:p.Cys186Ser
XM_024453002.1:c.557G>C	XP_024308770.1:p.Cys186Ser
XM_024453003.1:c.497G>C	XP_024308771.1:p.Cys166Ser
XM_024453004.1:c.497G>C	XP_024308772.1:p.Cys166Ser
XM_024453005.1:c.377G>C	XP_024308773.1:p.Cys126Ser
XM_024453006.1:c.314G>C	XP_024308774.1:p.Cys105Ser
NM_000312.4:c.314G>C MANE Select	NP_000303.1:p.Cys105Ser
NM_001375602.1:c.497G>C	NP_001362531.1:p.Cys166Ser
NM_001375603.1:c.377G>C	NP_001362532.1:p.Cys126Ser
NM_001375604.1:c.377G>C	NP_001362533.1:p.Cys126Ser
NM_001375605.1:c.314G>C	NP_001362534.1:p.Cys105Ser
NM_001375606.1:c.469G>C	NP_001362535.1:p.Ala157Pro
NM_001375607.1:c.398G>C	NP_001362536.1:p.Cys133Ser
NM_001375608.1:c.314G>C	NP_001362537.1:p.Cys105Ser
NM_001375609.1:c.290G>C	NP_001362538.1:p.Cys97Ser
NM_001375610.1:c.308G>C	NP_001362539.1:p.Cys103Ser
NM_001375611.1:c.314G>C	NP_001362540.1:p.Cys105Ser
NM_001375613.1:c.314G>C	NP_001362542.1:p.Cys105Ser