Canonical Allele Identifier: CA400193159

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186347C>G , CM000679.2:g.50186347C>G	GRCh38
NC_000017.10:g.48263708C>G , CM000679.1:g.48263708C>G	GRCh37
NC_000017.9:g.45618707C>G	NCBI36
NG_007400.1:g.20293G>C , LRG_1:g.20293G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3975G>C MANE Select	NP_000079.2:p.Trp1325Cys
ENST00000225964.10:c.3975G>C MANE Select	ENSP00000225964.6:p.Trp1325Cys
NM_000088.3:c.3975G>C , LRG_1t1:c.3975G>C	NP_000079.2:p.Trp1325Cys
ENST00000225964.9:c.3975G>C	ENSP00000225964.5:p.Trp1325Cys
ENST00000510710.3:n.644G>C
XM_005257058.3:c.3705G>C	XP_005257115.2:p.Trp1235Cys
XM_005257058.4:c.3705G>C	XP_005257115.2:p.Trp1235Cys
XM_005257059.3:c.3057G>C	XP_005257116.2:p.Trp1019Cys
XM_005257059.4:c.3057G>C	XP_005257116.2:p.Trp1019Cys
XM_011524341.1:c.3777G>C	XP_011522643.1:p.Trp1259Cys