Canonical Allele Identifier: CA400193142

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186345A>C , CM000679.2:g.50186345A>C	GRCh38
NC_000017.10:g.48263706A>C , CM000679.1:g.48263706A>C	GRCh37
NC_000017.9:g.45618705A>C	NCBI36
NG_007400.1:g.20295T>G , LRG_1:g.20295T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3977T>G MANE Select	NP_000079.2:p.Phe1326Cys
ENST00000225964.10:c.3977T>G MANE Select	ENSP00000225964.6:p.Phe1326Cys
NM_000088.3:c.3977T>G , LRG_1t1:c.3977T>G	NP_000079.2:p.Phe1326Cys
ENST00000225964.9:c.3977T>G	ENSP00000225964.5:p.Phe1326Cys
ENST00000510710.3:n.646T>G
XM_005257058.3:c.3707T>G	XP_005257115.2:p.Phe1236Cys
XM_005257058.4:c.3707T>G	XP_005257115.2:p.Phe1236Cys
XM_005257059.3:c.3059T>G	XP_005257116.2:p.Phe1020Cys
XM_005257059.4:c.3059T>G	XP_005257116.2:p.Phe1020Cys
XM_011524341.1:c.3779T>G	XP_011522643.1:p.Phe1260Cys