Canonical Allele Identifier: CA348398159

Gene: PROC

Linked Data

• gnomAD v4: 2-127421427-T-C
• MyVariant Identifiers: chr2:g.128179003T>C (hg19) ; chr2:g.127421427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127421427T>C , CM000664.2:g.127421427T>C	GRCh38
NC_000002.11:g.128179003T>C , CM000664.1:g.128179003T>C	GRCh37
NC_000002.10:g.127895473T>C	NCBI36
NG_016323.1:g.8008T>C , LRG_599:g.8008T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.215T>C MANE Select	ENSP00000234071.4:p.Ile72Thr
ENST00000234071.7:c.215T>C	ENSP00000234071.3:p.Ile72Thr
ENST00000409048.1:c.215T>C	ENSP00000386679.1:p.Ile72Thr
ENST00000419985.5:c.*21T>C	ENSP00000392606.1:n.*21T>C
ENST00000427769.5:c.215T>C	ENSP00000406295.1:p.Ile72Thr
ENST00000429925.5:c.215T>C	ENSP00000412697.1:p.Ile72Thr
ENST00000431364.1:c.*21T>C	ENSP00000391220.1:n.*21T>C
ENST00000442644.5:c.215T>C	ENSP00000411241.1:p.Ile72Thr
ENST00000474030.5:n.298T>C
NM_000312.3:c.215T>C , LRG_599t1:c.215T>C	NP_000303.1:p.Ile72Thr
XM_005263715.3:c.398T>C	XP_005263772.1:p.Ile133Thr
XM_005263716.3:c.278T>C	XP_005263773.1:p.Ile93Thr
XM_005263717.3:c.278T>C	XP_005263774.1:p.Ile93Thr
XM_005263717.4:c.278T>C	XP_005263774.1:p.Ile93Thr
XM_017004505.1:c.458T>C	XP_016859994.1:p.Ile153Thr
XM_024453002.1:c.458T>C	XP_024308770.1:p.Ile153Thr
XM_024453003.1:c.398T>C	XP_024308771.1:p.Ile133Thr
XM_024453004.1:c.398T>C	XP_024308772.1:p.Ile133Thr
XM_024453005.1:c.278T>C	XP_024308773.1:p.Ile93Thr
XM_024453006.1:c.215T>C	XP_024308774.1:p.Ile72Thr
NM_000312.4:c.215T>C MANE Select	NP_000303.1:p.Ile72Thr
NM_001375602.1:c.398T>C	NP_001362531.1:p.Ile133Thr
NM_001375603.1:c.278T>C	NP_001362532.1:p.Ile93Thr
NM_001375604.1:c.278T>C	NP_001362533.1:p.Ile93Thr
NM_001375605.1:c.215T>C	NP_001362534.1:p.Ile72Thr
NM_001375606.1:c.278T>C	NP_001362535.1:p.Ile93Thr
NM_001375607.1:c.299T>C	NP_001362536.1:p.Ile100Thr
NM_001375608.1:c.215T>C	NP_001362537.1:p.Ile72Thr
NM_001375609.1:c.191T>C	NP_001362538.1:p.Ile64Thr
NM_001375610.1:c.209T>C	NP_001362539.1:p.Ile70Thr
NM_001375611.1:c.215T>C	NP_001362540.1:p.Ile72Thr
NM_001375613.1:c.215T>C	NP_001362542.1:p.Ile72Thr