Canonical Allele Identifier: CA400190943

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48263005T>A (hg19) ; chr17:g.50185644T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185644T>A , CM000679.2:g.50185644T>A	GRCh38
NC_000017.10:g.48263005T>A , CM000679.1:g.48263005T>A	GRCh37
NC_000017.9:g.45618004T>A	NCBI36
NG_007400.1:g.20996A>T , LRG_1:g.20996A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4253A>T MANE Select	ENSP00000225964.6:p.His1418Leu
ENST00000225964.9:c.4253A>T	ENSP00000225964.5:p.His1418Leu
NM_000088.3:c.4253A>T , LRG_1t1:c.4253A>T	NP_000079.2:p.His1418Leu
XM_005257058.3:c.3983A>T	XP_005257115.2:p.His1328Leu
XM_005257059.3:c.3335A>T	XP_005257116.2:p.His1112Leu
XM_011524341.1:c.4055A>T	XP_011522643.1:p.His1352Leu
XM_005257058.4:c.3983A>T	XP_005257115.2:p.His1328Leu
XM_005257059.4:c.3335A>T	XP_005257116.2:p.His1112Leu
NM_000088.4:c.4253A>T MANE Select	NP_000079.2:p.His1418Leu