Canonical Allele Identifier: CA400203279

Gene: COL1A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188780C>A , CM000679.2:g.50188780C>A	GRCh38
NC_000017.10:g.48266141C>A , CM000679.1:g.48266141C>A	GRCh37
NC_000017.9:g.45621140C>A	NCBI36
NG_007400.1:g.17860G>T , LRG_1:g.17860G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3061G>T MANE Select	ENSP00000225964.6:p.Glu1021Ter
ENST00000225964.9:c.3061G>T	ENSP00000225964.5:p.Glu1021Ter
ENST00000511732.1:n.5G>T
NM_000088.3:c.3061G>T , LRG_1t1:c.3061G>T	NP_000079.2:p.Glu1021Ter
XM_005257058.3:c.2791G>T	XP_005257115.2:p.Glu931Ter
XM_005257059.3:c.2143G>T	XP_005257116.2:p.Glu715Ter
XM_011524341.1:c.2863G>T	XP_011522643.1:p.Glu955Ter
XM_005257058.4:c.2791G>T	XP_005257115.2:p.Glu931Ter
XM_005257059.4:c.2143G>T	XP_005257116.2:p.Glu715Ter
NM_000088.4:c.3061G>T MANE Select	NP_000079.2:p.Glu1021Ter