Canonical Allele Identifier: CA348401120

Gene: PROC

Linked Data

• dbSNP Id: rs1688478691
• MyVariant Identifiers: chr2:g.128183694T>C (hg19) ; chr2:g.127426118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426118T>C , CM000664.2:g.127426118T>C	GRCh38
NC_000002.11:g.128183694T>C , CM000664.1:g.128183694T>C	GRCh37
NC_000002.10:g.127900164T>C	NCBI36
NG_016323.1:g.12699T>C , LRG_599:g.12699T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.569T>C MANE Select	ENSP00000234071.4:p.Met190Thr
ENST00000234071.7:c.569T>C	ENSP00000234071.3:p.Met190Thr
ENST00000402125.2:c.121-2239T>C
ENST00000409048.1:c.671T>C	ENSP00000386679.1:p.Met224Thr
ENST00000442644.5:c.512T>C	ENSP00000411241.1:p.Met171Thr
ENST00000464089.1:n.155T>C
NM_000312.3:c.569T>C , LRG_599t1:c.569T>C	NP_000303.1:p.Met190Thr
XM_005263715.3:c.752T>C	XP_005263772.1:p.Met251Thr
XM_005263716.3:c.734T>C	XP_005263773.1:p.Met245Thr
XM_005263717.3:c.632T>C	XP_005263774.1:p.Met211Thr
XM_005263717.4:c.632T>C	XP_005263774.1:p.Met211Thr
XM_017004505.1:c.812T>C	XP_016859994.1:p.Met271Thr
XM_024453002.1:c.914T>C	XP_024308770.1:p.Met305Thr
XM_024453003.1:c.854T>C	XP_024308771.1:p.Met285Thr
XM_024453004.1:c.752T>C	XP_024308772.1:p.Met251Thr
XM_024453005.1:c.734T>C	XP_024308773.1:p.Met245Thr
XM_024453006.1:c.671T>C	XP_024308774.1:p.Met224Thr
XR_923313.2:n.4467A>G
NM_000312.4:c.569T>C MANE Select	NP_000303.1:p.Met190Thr
NM_001375602.1:c.752T>C	NP_001362531.1:p.Met251Thr
NM_001375603.1:c.734T>C	NP_001362532.1:p.Met245Thr
NM_001375604.1:c.632T>C	NP_001362533.1:p.Met211Thr
NM_001375605.1:c.671T>C	NP_001362534.1:p.Met224Thr
NM_001375606.1:c.737T>C	NP_001362535.1:p.Met246Thr
NM_001375607.1:c.755T>C	NP_001362536.1:p.Met252Thr
NM_001375608.1:c.512T>C	NP_001362537.1:p.Met171Thr
NM_001375609.1:c.545T>C	NP_001362538.1:p.Met182Thr
NM_001375610.1:c.563T>C	NP_001362539.1:p.Met188Thr
NM_001375611.1:c.569T>C	NP_001362540.1:p.Met190Thr
NM_001375613.1:c.569T>C	NP_001362542.1:p.Met190Thr