Canonical Allele Identifier: CA400192334

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185936G>A , CM000679.2:g.50185936G>A	GRCh38
NC_000017.10:g.48263297G>A , CM000679.1:g.48263297G>A	GRCh37
NC_000017.9:g.45618296G>A	NCBI36
NG_007400.1:g.20704C>T , LRG_1:g.20704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4090C>T MANE Select	ENSP00000225964.6:p.Gln1364Ter
ENST00000225964.9:c.4090C>T	ENSP00000225964.5:p.Gln1364Ter
ENST00000510710.3:n.1055C>T
NM_000088.3:c.4090C>T , LRG_1t1:c.4090C>T	NP_000079.2:p.Gln1364Ter
XM_005257058.3:c.3820C>T	XP_005257115.2:p.Gln1274Ter
XM_005257059.3:c.3172C>T	XP_005257116.2:p.Gln1058Ter
XM_011524341.1:c.3892C>T	XP_011522643.1:p.Gln1298Ter
XM_005257058.4:c.3820C>T	XP_005257115.2:p.Gln1274Ter
XM_005257059.4:c.3172C>T	XP_005257116.2:p.Gln1058Ter
NM_000088.4:c.4090C>T MANE Select	NP_000079.2:p.Gln1364Ter