Canonical Allele Identifier: CA400203807

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188934A>T , CM000679.2:g.50188934A>T	GRCh38
NC_000017.10:g.48266295A>T , CM000679.1:g.48266295A>T	GRCh37
NC_000017.9:g.45621294A>T	NCBI36
NG_007400.1:g.17706T>A , LRG_1:g.17706T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3014T>A MANE Select	NP_000079.2:p.Leu1005Ter
ENST00000225964.10:c.3014T>A MANE Select	ENSP00000225964.6:p.Leu1005Ter
NM_000088.3:c.3014T>A , LRG_1t1:c.3014T>A	NP_000079.2:p.Leu1005Ter
ENST00000225964.9:c.3014T>A	ENSP00000225964.5:p.Leu1005Ter
XM_005257058.3:c.2744T>A	XP_005257115.2:p.Leu915Ter
XM_005257058.4:c.2744T>A	XP_005257115.2:p.Leu915Ter
XM_005257059.3:c.2096T>A	XP_005257116.2:p.Leu699Ter
XM_005257059.4:c.2096T>A	XP_005257116.2:p.Leu699Ter
XM_011524341.1:c.2816T>A	XP_011522643.1:p.Leu939Ter