Canonical Allele Identifier: CA348397732

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128178904T>A (hg19) ; chr2:g.127421328T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127421328T>A , CM000664.2:g.127421328T>A	GRCh38
NC_000002.11:g.128178904T>A , CM000664.1:g.128178904T>A	GRCh37
NC_000002.10:g.127895374T>A	NCBI36
NG_016323.1:g.7909T>A , LRG_599:g.7909T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.116T>A MANE Select	ENSP00000234071.4:p.Ile39Asn
ENST00000234071.7:c.116T>A	ENSP00000234071.3:p.Ile39Asn
ENST00000409048.1:c.116T>A	ENSP00000386679.1:p.Ile39Asn
ENST00000419985.5:c.81T>A	ENSP00000392606.1:p.Asp27Glu
ENST00000427769.5:c.116T>A	ENSP00000406295.1:p.Ile39Asn
ENST00000429925.5:c.116T>A	ENSP00000412697.1:p.Ile39Asn
ENST00000431364.1:c.81T>A	ENSP00000391220.1:p.Asp27Glu
ENST00000442644.5:c.116T>A	ENSP00000411241.1:p.Ile39Asn
ENST00000474030.5:n.199T>A
NM_000312.3:c.116T>A , LRG_599t1:c.116T>A	NP_000303.1:p.Ile39Asn
XM_005263715.3:c.299T>A	XP_005263772.1:p.Ile100Asn
XM_005263716.3:c.179T>A	XP_005263773.1:p.Ile60Asn
XM_005263717.3:c.179T>A	XP_005263774.1:p.Ile60Asn
XM_005263717.4:c.179T>A	XP_005263774.1:p.Ile60Asn
XM_017004505.1:c.359T>A	XP_016859994.1:p.Ile120Asn
XM_024453002.1:c.359T>A	XP_024308770.1:p.Ile120Asn
XM_024453003.1:c.299T>A	XP_024308771.1:p.Ile100Asn
XM_024453004.1:c.299T>A	XP_024308772.1:p.Ile100Asn
XM_024453005.1:c.179T>A	XP_024308773.1:p.Ile60Asn
XM_024453006.1:c.116T>A	XP_024308774.1:p.Ile39Asn
NM_000312.4:c.116T>A MANE Select	NP_000303.1:p.Ile39Asn
NM_001375602.1:c.299T>A	NP_001362531.1:p.Ile100Asn
NM_001375603.1:c.179T>A	NP_001362532.1:p.Ile60Asn
NM_001375604.1:c.179T>A	NP_001362533.1:p.Ile60Asn
NM_001375605.1:c.116T>A	NP_001362534.1:p.Ile39Asn
NM_001375606.1:c.179T>A	NP_001362535.1:p.Ile60Asn
NM_001375607.1:c.200T>A	NP_001362536.1:p.Ile67Asn
NM_001375608.1:c.116T>A	NP_001362537.1:p.Ile39Asn
NM_001375609.1:c.92T>A	NP_001362538.1:p.Ile31Asn
NM_001375610.1:c.110T>A	NP_001362539.1:p.Ile37Asn
NM_001375611.1:c.116T>A	NP_001362540.1:p.Ile39Asn
NM_001375613.1:c.116T>A	NP_001362542.1:p.Ile39Asn