Canonical Allele Identifier: CA348405726

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186220T>C (hg19) ; chr2:g.127428644T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428644T>C , CM000664.2:g.127428644T>C	GRCh38
NC_000002.11:g.128186220T>C , CM000664.1:g.128186220T>C	GRCh37
NC_000002.10:g.127902690T>C	NCBI36
NG_016323.1:g.15225T>C , LRG_599:g.15225T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.1084T>C MANE Select	ENSP00000234071.4:p.Phe362Leu
ENST00000234071.7:c.1084T>C	ENSP00000234071.3:p.Phe362Leu
ENST00000402125.2:c.408T>C
ENST00000409048.1:c.1186T>C	ENSP00000386679.1:p.Phe396Leu
NM_000312.3:c.1084T>C , LRG_599t1:c.1084T>C	NP_000303.1:p.Phe362Leu
XM_005263715.3:c.1267T>C	XP_005263772.1:p.Phe423Leu
XM_005263716.3:c.1249T>C	XP_005263773.1:p.Phe417Leu
XM_005263717.3:c.1147T>C	XP_005263774.1:p.Phe383Leu
XR_923313.1:n.1332-380A>G
XM_005263717.4:c.1147T>C	XP_005263774.1:p.Phe383Leu
XM_017004505.1:c.1327T>C	XP_016859994.1:p.Phe443Leu
XM_024453002.1:c.1429T>C	XP_024308770.1:p.Phe477Leu
XM_024453003.1:c.1369T>C	XP_024308771.1:p.Phe457Leu
XM_024453004.1:c.1267T>C	XP_024308772.1:p.Phe423Leu
XM_024453005.1:c.1249T>C	XP_024308773.1:p.Phe417Leu
XM_024453006.1:c.1186T>C	XP_024308774.1:p.Phe396Leu
XR_001739705.1:n.3607-380A>G
XR_923313.2:n.4043-380A>G
NM_000312.4:c.1084T>C MANE Select	NP_000303.1:p.Phe362Leu
NM_001375602.1:c.1267T>C	NP_001362531.1:p.Phe423Leu
NM_001375603.1:c.1249T>C	NP_001362532.1:p.Phe417Leu
NM_001375604.1:c.1147T>C	NP_001362533.1:p.Phe383Leu
NM_001375605.1:c.1186T>C	NP_001362534.1:p.Phe396Leu
NM_001375606.1:c.1252T>C	NP_001362535.1:p.Phe418Leu
NM_001375607.1:c.1270T>C	NP_001362536.1:p.Phe424Leu
NM_001375608.1:c.1027T>C	NP_001362537.1:p.Phe343Leu
NM_001375609.1:c.1060T>C	NP_001362538.1:p.Phe354Leu
NM_001375610.1:c.1078T>C	NP_001362539.1:p.Phe360Leu
NM_001375611.1:c.1084T>C	NP_001362540.1:p.Phe362Leu
NM_001375613.1:c.1084T>C	NP_001362542.1:p.Phe362Leu