Canonical Allele Identifier: CA400190313

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185569G>A , CM000679.2:g.50185569G>A	GRCh38
NC_000017.10:g.48262930G>A , CM000679.1:g.48262930G>A	GRCh37
NC_000017.9:g.45617929G>A	NCBI36
NG_007400.1:g.21071C>T , LRG_1:g.21071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4328C>T MANE Select	ENSP00000225964.6:p.Ala1443Val
ENST00000225964.9:c.4328C>T	ENSP00000225964.5:p.Ala1443Val
NM_000088.3:c.4328C>T , LRG_1t1:c.4328C>T	NP_000079.2:p.Ala1443Val
XM_005257058.3:c.4058C>T	XP_005257115.2:p.Ala1353Val
XM_005257059.3:c.3410C>T	XP_005257116.2:p.Ala1137Val
XM_011524341.1:c.4130C>T	XP_011522643.1:p.Ala1377Val
XM_005257058.4:c.4058C>T	XP_005257115.2:p.Ala1353Val
XM_005257059.4:c.3410C>T	XP_005257116.2:p.Ala1137Val
NM_000088.4:c.4328C>T MANE Select	NP_000079.2:p.Ala1443Val