Canonical Allele Identifier: CA1859294

Gene: PROC

Linked Data

• dbSNP Id: rs201371512
• ExAC: 2:128180553 C / T
• gnomAD v2: 2-128180553-C-T
• gnomAD v4: 2-127422977-C-T
• MyVariant Identifiers: chr2:g.128180553C>T (hg19) ; chr2:g.127422977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127422977C>T , CM000664.2:g.127422977C>T	GRCh38
NC_000002.11:g.128180553C>T , CM000664.1:g.128180553C>T	GRCh37
NC_000002.10:g.127897023C>T	NCBI36
NG_016323.1:g.9558C>T , LRG_599:g.9558C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.262+36C>T MANE Select	ENSP00000234071.4:n.262+36C>T
ENST00000234071.7:c.262+36C>T	ENSP00000234071.3:n.262+36C>T
ENST00000409048.1:c.262+36C>T	ENSP00000386679.1:n.262+36C>T
ENST00000419985.5:c.*68+36C>T	ENSP00000392606.1:n.*68+36C>T
ENST00000427769.5:c.262+36C>T	ENSP00000406295.1:n.262+36C>T
ENST00000429925.5:c.262+36C>T	ENSP00000412697.1:n.262+36C>T
ENST00000431364.1:c.*68+36C>T	ENSP00000391220.1:n.*68+36C>T
ENST00000442644.5:c.262+36C>T	ENSP00000411241.1:n.262+36C>T
ENST00000474030.5:n.381C>T
NM_000312.3:c.262+36C>T , LRG_599t1:c.262+36C>T	NP_000303.1:n.262+36C>T
XM_005263715.3:c.445+36C>T	XP_005263772.1:n.445+36C>T
XM_005263716.3:c.325+36C>T	XP_005263773.1:n.325+36C>T
XM_005263717.3:c.325+36C>T	XP_005263774.1:n.325+36C>T
XM_005263717.4:c.325+36C>T	XP_005263774.1:n.325+36C>T
XM_017004505.1:c.505+36C>T	XP_016859994.1:n.505+36C>T
XM_024453002.1:c.505+36C>T	XP_024308770.1:n.505+36C>T
XM_024453003.1:c.445+36C>T	XP_024308771.1:n.445+36C>T
XM_024453004.1:c.445+36C>T	XP_024308772.1:n.445+36C>T
XM_024453005.1:c.325+36C>T	XP_024308773.1:n.325+36C>T
XM_024453006.1:c.262+36C>T	XP_024308774.1:n.262+36C>T
NM_000312.4:c.262+36C>T MANE Select	NP_000303.1:n.262+36C>T
NM_001375602.1:c.445+36C>T	NP_001362531.1:n.445+36C>T
NM_001375603.1:c.325+36C>T	NP_001362532.1:n.325+36C>T
NM_001375604.1:c.325+36C>T	NP_001362533.1:n.325+36C>T
NM_001375605.1:c.262+36C>T	NP_001362534.1:n.262+36C>T
NM_001375606.1:c.361C>T	NP_001362535.1:p.Arg121Cys
NM_001375607.1:c.346+36C>T	NP_001362536.1:n.346+36C>T
NM_001375608.1:c.262+36C>T	NP_001362537.1:n.262+36C>T
NM_001375609.1:c.238+36C>T	NP_001362538.1:n.238+36C>T
NM_001375610.1:c.256+36C>T	NP_001362539.1:n.256+36C>T
NM_001375611.1:c.262+36C>T	NP_001362540.1:n.262+36C>T
NM_001375613.1:c.262+36C>T	NP_001362542.1:n.262+36C>T