Canonical Allele Identifier: CA1859240

Gene: PROC

Linked Data

• dbSNP Id: rs748083494
• ExAC: 2:128178898 T / C
• gnomAD v2: 2-128178898-T-C
• gnomAD v4: 2-127421322-T-C
• MyVariant Identifiers: chr2:g.128178898T>C (hg19) ; chr2:g.127421322T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127421322T>C , CM000664.2:g.127421322T>C	GRCh38
NC_000002.11:g.128178898T>C , CM000664.1:g.128178898T>C	GRCh37
NC_000002.10:g.127895368T>C	NCBI36
NG_016323.1:g.7903T>C , LRG_599:g.7903T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.110T>C MANE Select	ENSP00000234071.4:p.Leu37Pro
ENST00000234071.7:c.110T>C	ENSP00000234071.3:p.Leu37Pro
ENST00000409048.1:c.110T>C	ENSP00000386679.1:p.Leu37Pro
ENST00000419985.5:c.75T>C	ENSP00000392606.1:p.Ala25=
ENST00000427769.5:c.110T>C	ENSP00000406295.1:p.Leu37Pro
ENST00000429925.5:c.110T>C	ENSP00000412697.1:p.Leu37Pro
ENST00000431364.1:c.75T>C	ENSP00000391220.1:p.Ala25=
ENST00000442644.5:c.110T>C	ENSP00000411241.1:p.Leu37Pro
ENST00000474030.5:n.193T>C
NM_000312.3:c.110T>C , LRG_599t1:c.110T>C	NP_000303.1:p.Leu37Pro
XM_005263715.3:c.293T>C	XP_005263772.1:p.Leu98Pro
XM_005263716.3:c.173T>C	XP_005263773.1:p.Leu58Pro
XM_005263717.3:c.173T>C	XP_005263774.1:p.Leu58Pro
XM_005263717.4:c.173T>C	XP_005263774.1:p.Leu58Pro
XM_017004505.1:c.353T>C	XP_016859994.1:p.Leu118Pro
XM_024453002.1:c.353T>C	XP_024308770.1:p.Leu118Pro
XM_024453003.1:c.293T>C	XP_024308771.1:p.Leu98Pro
XM_024453004.1:c.293T>C	XP_024308772.1:p.Leu98Pro
XM_024453005.1:c.173T>C	XP_024308773.1:p.Leu58Pro
XM_024453006.1:c.110T>C	XP_024308774.1:p.Leu37Pro
NM_000312.4:c.110T>C MANE Select	NP_000303.1:p.Leu37Pro
NM_001375602.1:c.293T>C	NP_001362531.1:p.Leu98Pro
NM_001375603.1:c.173T>C	NP_001362532.1:p.Leu58Pro
NM_001375604.1:c.173T>C	NP_001362533.1:p.Leu58Pro
NM_001375605.1:c.110T>C	NP_001362534.1:p.Leu37Pro
NM_001375606.1:c.173T>C	NP_001362535.1:p.Leu58Pro
NM_001375607.1:c.194T>C	NP_001362536.1:p.Leu65Pro
NM_001375608.1:c.110T>C	NP_001362537.1:p.Leu37Pro
NM_001375609.1:c.86T>C	NP_001362538.1:p.Leu29Pro
NM_001375610.1:c.104T>C	NP_001362539.1:p.Leu35Pro
NM_001375611.1:c.110T>C	NP_001362540.1:p.Leu37Pro
NM_001375613.1:c.110T>C	NP_001362542.1:p.Leu37Pro