Canonical Allele Identifier: CA348401511

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183762A>C (hg19) ; chr2:g.127426186A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426186A>C , CM000664.2:g.127426186A>C	GRCh38
NC_000002.11:g.128183762A>C , CM000664.1:g.128183762A>C	GRCh37
NC_000002.10:g.127900232A>C	NCBI36
NG_016323.1:g.12767A>C , LRG_599:g.12767A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.637A>C MANE Select	ENSP00000234071.4:p.Ile213Leu
ENST00000234071.7:c.637A>C	ENSP00000234071.3:p.Ile213Leu
ENST00000402125.2:c.121-2171A>C
ENST00000409048.1:c.739A>C	ENSP00000386679.1:p.Ile247Leu
ENST00000464089.1:n.223A>C
NM_000312.3:c.637A>C , LRG_599t1:c.637A>C	NP_000303.1:p.Ile213Leu
XM_005263715.3:c.820A>C	XP_005263772.1:p.Ile274Leu
XM_005263716.3:c.802A>C	XP_005263773.1:p.Ile268Leu
XM_005263717.3:c.700A>C	XP_005263774.1:p.Ile234Leu
XM_005263717.4:c.700A>C	XP_005263774.1:p.Ile234Leu
XM_017004505.1:c.880A>C	XP_016859994.1:p.Ile294Leu
XM_024453002.1:c.982A>C	XP_024308770.1:p.Ile328Leu
XM_024453003.1:c.922A>C	XP_024308771.1:p.Ile308Leu
XM_024453004.1:c.820A>C	XP_024308772.1:p.Ile274Leu
XM_024453005.1:c.802A>C	XP_024308773.1:p.Ile268Leu
XM_024453006.1:c.739A>C	XP_024308774.1:p.Ile247Leu
XR_923313.2:n.4399T>G
NM_000312.4:c.637A>C MANE Select	NP_000303.1:p.Ile213Leu
NM_001375602.1:c.820A>C	NP_001362531.1:p.Ile274Leu
NM_001375603.1:c.802A>C	NP_001362532.1:p.Ile268Leu
NM_001375604.1:c.700A>C	NP_001362533.1:p.Ile234Leu
NM_001375605.1:c.739A>C	NP_001362534.1:p.Ile247Leu
NM_001375606.1:c.805A>C	NP_001362535.1:p.Ile269Leu
NM_001375607.1:c.823A>C	NP_001362536.1:p.Ile275Leu
NM_001375608.1:c.580A>C	NP_001362537.1:p.Ile194Leu
NM_001375609.1:c.613A>C	NP_001362538.1:p.Ile205Leu
NM_001375610.1:c.631A>C	NP_001362539.1:p.Ile211Leu
NM_001375611.1:c.637A>C	NP_001362540.1:p.Ile213Leu
NM_001375613.1:c.637A>C	NP_001362542.1:p.Ile213Leu