Canonical Allele Identifier: CA364742260

Gene: COL12A1

Linked Data

• MyVariant Identifiers: chr6:g.75853051T>A (hg19) ; chr6:g.75143335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75143335T>A , CM000668.2:g.75143335T>A	GRCh38
NC_000006.11:g.75853051T>A , CM000668.1:g.75853051T>A	GRCh37
NC_000006.10:g.75909771T>A	NCBI36
NG_042181.1:g.67573A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.4744A>T MANE Select	ENSP00000325146.8:p.Met1582Leu
ENST00000322507.12:c.4744A>T	ENSP00000325146.8:p.Met1582Leu
ENST00000345356.10:c.1252A>T	ENSP00000305147.9:p.Met418Leu
ENST00000416123.6:c.4744A>T	ENSP00000412864.2:p.Met1582Leu
ENST00000419671.1:c.968A>T
ENST00000474564.1:n.368A>T
ENST00000483888.6:c.4744A>T	ENSP00000421216.1:p.Met1582Leu
ENST00000615798.4:c.1177A>T	ENSP00000483232.1:p.Met393Leu
NM_004370.5:c.4744A>T	NP_004361.3:p.Met1582Leu
NM_080645.2:c.1252A>T	NP_542376.2:p.Met418Leu
XM_011535434.1:c.4744A>T	XP_011533736.1:p.Met1582Leu
XM_011535435.1:c.4471A>T	XP_011533737.1:p.Met1491Leu
XM_011535436.1:c.1252A>T	XP_011533738.1:p.Met418Leu
XM_011535436.2:c.1252A>T	XP_011533738.1:p.Met418Leu
XM_017010252.2:c.4708A>T	XP_016865741.1:p.Met1570Leu
NM_004370.6:c.4744A>T MANE Select	NP_004361.3:p.Met1582Leu
NM_080645.3:c.1252A>T	NP_542376.2:p.Met418Leu