Canonical Allele Identifier: CA348406027

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186289A>C (hg19) ; chr2:g.127428713A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428713A>C , CM000664.2:g.127428713A>C	GRCh38
NC_000002.11:g.128186289A>C , CM000664.1:g.128186289A>C	GRCh37
NC_000002.10:g.127902759A>C	NCBI36
NG_016323.1:g.15294A>C , LRG_599:g.15294A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1153A>C MANE Select	ENSP00000234071.4:p.Met385Leu
ENST00000234071.7:c.1153A>C	ENSP00000234071.3:p.Met385Leu
ENST00000402125.2:c.477A>C
ENST00000409048.1:c.1255A>C	ENSP00000386679.1:p.Met419Leu
NM_000312.3:c.1153A>C , LRG_599t1:c.1153A>C	NP_000303.1:p.Met385Leu
XM_005263715.3:c.1336A>C	XP_005263772.1:p.Met446Leu
XM_005263716.3:c.1318A>C	XP_005263773.1:p.Met440Leu
XM_005263717.3:c.1216A>C	XP_005263774.1:p.Met406Leu
XR_923313.1:n.1332-449T>G
XM_005263717.4:c.1216A>C	XP_005263774.1:p.Met406Leu
XM_017004505.1:c.1396A>C	XP_016859994.1:p.Met466Leu
XM_024453002.1:c.1498A>C	XP_024308770.1:p.Met500Leu
XM_024453003.1:c.1438A>C	XP_024308771.1:p.Met480Leu
XM_024453004.1:c.1336A>C	XP_024308772.1:p.Met446Leu
XM_024453005.1:c.1318A>C	XP_024308773.1:p.Met440Leu
XM_024453006.1:c.1255A>C	XP_024308774.1:p.Met419Leu
XR_001739705.1:n.3607-449T>G
XR_923313.2:n.4043-449T>G
NM_000312.4:c.1153A>C MANE Select	NP_000303.1:p.Met385Leu
NM_001375602.1:c.1336A>C	NP_001362531.1:p.Met446Leu
NM_001375603.1:c.1318A>C	NP_001362532.1:p.Met440Leu
NM_001375604.1:c.1216A>C	NP_001362533.1:p.Met406Leu
NM_001375605.1:c.1255A>C	NP_001362534.1:p.Met419Leu
NM_001375606.1:c.1321A>C	NP_001362535.1:p.Met441Leu
NM_001375607.1:c.1339A>C	NP_001362536.1:p.Met447Leu
NM_001375608.1:c.1096A>C	NP_001362537.1:p.Met366Leu
NM_001375609.1:c.1129A>C	NP_001362538.1:p.Met377Leu
NM_001375610.1:c.1147A>C	NP_001362539.1:p.Met383Leu
NM_001375611.1:c.1153A>C	NP_001362540.1:p.Met385Leu
NM_001375613.1:c.1153A>C	NP_001362542.1:p.Met385Leu