Canonical Allele Identifier: CA348405811

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186241C>G (hg19) ; chr2:g.127428665C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428665C>G , CM000664.2:g.127428665C>G	GRCh38
NC_000002.11:g.128186241C>G , CM000664.1:g.128186241C>G	GRCh37
NC_000002.10:g.127902711C>G	NCBI36
NG_016323.1:g.15246C>G , LRG_599:g.15246C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1105C>G MANE Select	ENSP00000234071.4:p.Pro369Ala
ENST00000234071.7:c.1105C>G	ENSP00000234071.3:p.Pro369Ala
ENST00000402125.2:c.429C>G
ENST00000409048.1:c.1207C>G	ENSP00000386679.1:p.Pro403Ala
NM_000312.3:c.1105C>G , LRG_599t1:c.1105C>G	NP_000303.1:p.Pro369Ala
XM_005263715.3:c.1288C>G	XP_005263772.1:p.Pro430Ala
XM_005263716.3:c.1270C>G	XP_005263773.1:p.Pro424Ala
XM_005263717.3:c.1168C>G	XP_005263774.1:p.Pro390Ala
XR_923313.1:n.1332-401G>C
XM_005263717.4:c.1168C>G	XP_005263774.1:p.Pro390Ala
XM_017004505.1:c.1348C>G	XP_016859994.1:p.Pro450Ala
XM_024453002.1:c.1450C>G	XP_024308770.1:p.Pro484Ala
XM_024453003.1:c.1390C>G	XP_024308771.1:p.Pro464Ala
XM_024453004.1:c.1288C>G	XP_024308772.1:p.Pro430Ala
XM_024453005.1:c.1270C>G	XP_024308773.1:p.Pro424Ala
XM_024453006.1:c.1207C>G	XP_024308774.1:p.Pro403Ala
XR_001739705.1:n.3607-401G>C
XR_923313.2:n.4043-401G>C
NM_000312.4:c.1105C>G MANE Select	NP_000303.1:p.Pro369Ala
NM_001375602.1:c.1288C>G	NP_001362531.1:p.Pro430Ala
NM_001375603.1:c.1270C>G	NP_001362532.1:p.Pro424Ala
NM_001375604.1:c.1168C>G	NP_001362533.1:p.Pro390Ala
NM_001375605.1:c.1207C>G	NP_001362534.1:p.Pro403Ala
NM_001375606.1:c.1273C>G	NP_001362535.1:p.Pro425Ala
NM_001375607.1:c.1291C>G	NP_001362536.1:p.Pro431Ala
NM_001375608.1:c.1048C>G	NP_001362537.1:p.Pro350Ala
NM_001375609.1:c.1081C>G	NP_001362538.1:p.Pro361Ala
NM_001375610.1:c.1099C>G	NP_001362539.1:p.Pro367Ala
NM_001375611.1:c.1105C>G	NP_001362540.1:p.Pro369Ala
NM_001375613.1:c.1105C>G	NP_001362542.1:p.Pro369Ala